Librarians and information specialists have been finding ways to manage electronic resources for over a decade now. However, much of this work has been an ad hoc and learn-as-you-go process. Chapter 1 of Library Technology Reports (vol. 49, no. 2) “Techniques for Electronic Resource Management” shows that the literature on electronic resource management is segmented into many different areas of traditional librarian roles within the library. In addition, the literature shows how management of these resources has driven the development of various management tools in the market, as well as serving as the greatest need in the development of next-generation library systems. Techniques in Electronic Resource Management (TERMS) is an attempt to create an ongoing and continually developing set of management best practices for electronic resource management in libraries.
An important role for librarians over the next five to ten years is to provide access to online library resources—free, open-access, or purchased, all valuable resources—in an intuitive, easy-to-use one-stop shop and not to be afraid of running a continual beta test in which new services and functions can be added when necessary. To fill this role, librarians and electronic resources managers need flexible, interoperable resource-discovery systems based on open-source software. In addition, we must continue to assess users’ needs and reach out by adapting our systems to fit their requirements, rather than expecting them to come to us; indeed, our very future depends on it. 1
Two decades after the advent of electronic journals and databases, librarians are still grappling with ways to best manage e-resources in conjunction with traditional print resources and at the same time explore new purchasing initiatives and practices, such as demand-driven acquisition of electronic books. In addition, these times of economic austerity are creating budgetary pressures at many institutions of higher education, resulting in librarians having to justify their spending on collections and resource management more than ever.
Techniques for Electronic Resource Management (TERMS) began in 2008 after a discussion about electronic resource management (ERM), current ERM tools, and what was lacking both in current practice and with the systems available. TERMS expands on Pesch’s electronic resources life cycle (see figure 1.1 ) and seeks to become a reference point for those who are new to ERM, those who have suddenly shifted job functions to oversee ERM, and those who may want to implement its recommendations of best practice.
TERMS Tumblr blog http://6terms.tumblr.com TERMS Facebook group https://www.facebook.com/groups/174086169332439 6TERMS on Twitter https://twitter.com/6terms
TERMS Wiki: Main Page http://library.hud.ac.uk/wikiterms/Main_Page
In 2012, TERMS was also endorsed by the Knowledge Base + project in the United Kingdom, which has a project deliverable of providing “workflow management tools related to the selection, review, renewal and cancellation of publications” 2 and has also received interest in the United States from GoKB from Kuali OLE (open library environment), “a community of nine research libraries working together to build the first open-source system designed by and for academic and research libraries for managing and delivering intellectual information.” 3
Electronic Resources and Libraries website www.electroniclibrarian.com
One of the first things to note when performing a literature review on ERM is that there are no independent literature reviews solely on this area. Instead, ERM has now become an integral part of standard literature reviews for acquisitions processing, collection development and management, cataloging and classification, and serials management. At the same time, there are areas of ERM that sit outside of these traditional functioning areas in libraries. This makes performing a literature review on ERM more of a challenge.
From the field of library acquisitions, the issues most readily identified in recent years have been the switch from print processing to ERM and the continued struggle to find management tools that work within the local library context. 6
“Simply put, collection management is the systemic, efficient and economic stewardship of library resources.” 7 The term collection development has been with us since the 1960s. 8 However, it is a constantly evolving area, and as the library collection moves from one dominated by print to one dominated by electronic resources, collection development policies may have been patched rather than redesigned to reflect the different emphasis on delivery. In a 2012 study, Mangrum and Pozzebon found that “over half of the libraries tried to address ER [electronic resources] in some way. However, most policies contain traditional language with a section on library ER inserted into the latter portion of the document.” 9
In regard to collection development and management trends, the two biggest growth areas are e-book purchasing and purchase-on-demand or patron-driven acquisition models. There has been an explosion in collection management literature on these two topics over the past three to four years. 10 A single place for best practices, or from which a local library can create its own localized best practices, is definitely needed: “Bleiler and Livingston stressed that a lack of established policies and procedures for assessment puts a library at risk for financial loss and recommended that libraries create selection policies and standardized methods for assessment, train staff for contract negotiation, and share strategies, policies, and best practices.” 11
In addition to changes to the format of delivery of library resources, libraries must also contend with the impact of today’s economic environment. Hazen suggests that libraries need to rethink their collection development in light of these issues and move from collection to collection and content, where content is “a category that encompasses everything to which a library enjoys ready physical or digital access regardless of ownership status [and] is central to all that we do.” 12
In 2001, Jewell reported on the selection, licensing, and support of online materials by research libraries and concluded that several libraries had developed local systems for acquiring, managing, and supporting electronic resources. 13 Jewell’s report was followed in 2004 by a report from the Digital Library Federation’s (DLF) Electronic Resource Management Initiative (ERMI), which “was organized to support the rapid development of such systems by producing a series of interrelated documents to define needs and to help establish data standards.” 14 The report went on to provide a road map for ERM.
On the back end, we continue to rely on methods developed when we had 250 rather than 25,000 eresources. Information on our electronic resources is currently kept in paper files (license agreements), Excel spreadsheets (vendor contact information and administrative passwords), staff web pages (usage statistics), small databases (trial and decision tracking, divisional library resources, technical problem reports), SFX (ejournal holdings), and our ILS (acquisitions and payment data). Few of these systems are connected to each other; in some cases, information is readily accessible only to one or a few individuals, not by intent, but by the limitations of the storage mechanism. Many procedures are not documented and rely on informal channels of communication. 15
More recently there have been a number of open-source and community ERM systems, such as CORAL 16 and CUFTS, developed by Simon Fraser University (SFU) and implemented by SFU and the University of Prince Edward Island, which view this “technology not necessarily as a way of spending less money, but spending money more wisely.” 17
Another growing area of ERM is the work being performed to develop a suite of standards to support the vast amount of access and management knowledge and myriad of tools needed to maintain adequate access to electronic resources. 18 According to Sarah Glasser, “KBART and IOTA are both working to decrease OpenURL link failures that are caused by metadata deficiencies.” In addition, “PIE-J differs from KBART and IOTA because it is not focused on link resolver errors. Formed by NISO in 2010, PIE-J addresses access barriers that arise from the manner in which electronic journals are presented on provider websites.” 19
There has been a lot of discussion about the implementation of ERM systems in recent years. 20 However, use of these systems is still far from ubiquitous, and many academic libraries have yet to implement or even purchase a system. “A risk of ERMS implementations, more talked about than written about … was that the costs (in added work) to maintain a new system would outweigh the value of the added functionality.” 21 Despite early expectations, Collins and Grogg see the current crop of ERM systems as “less like a silver bullet and more like a round of buckshot.” 22
One of the most time-consuming parts of an ERM implementation is analyzing licenses and inputting them into the relevant fields of an ERM system in order for them to be meaningful to librarians and patrons. The University of Northern Colorado has developed an in-house system to perform license mapping that “makes information that is often deeply embedded within a license readily available to library personnel who could use such information in the daily operations of the library. This information is useful to any library that maintains license agreements for electronic resources.” 23
A panel session at the 2010 NASIG conference concluded that the “ERM system at UC has not solved all their problems, but some improvements have been realized. Budget tracking and staffing continue to be challenges. A final determination of the effectiveness will not be evident until the system becomes a part of the general staff workflow and not considered as something extra.” 24
Collins and Grogg cited workflow management as number one in librarians’ top six ERM priorities. They found that “over a third of librarians surveyed prioritized workflow or communications management, and they called it one of the biggest deficiencies (and disappointments) of ERMS functionality.” 25 This area has also been highlighted by the National Information Standards Organization (NISO), which has created a working group, ERM Data Standards and Best Practices Review, to undertake a gap analysis regarding ERM. 26
In the United Kingdom, the Managing Electronic Resource Issues (MERI) project at the University of Salford aimed “to produce a use case of ERM systems and a preliminary set of requirements for an electronic resource management system, for use by the University of Salford and other HE institutions and system suppliers.” 27 The requirements document from this project went on to inform the SCONUL shared ERM requirements project. An output of these projects was a set of workflows that describe the various processes involved in managing electronic resources. 28 The University of Huddersfield was one of the sixteen UK universities to take part, and like others, had never actually recorded these workflows until asked to do so by the project. All project members found that by recording workflows, they were able to take advantage of efficiencies discovered as part of documenting the process.
One of the objectives of the TERMS blog and wiki was to collect a number of e-resource workflows from a variety of different types of libraries. Both the University of Huddersfield and Portland State University shared their workflows as part of TERMS. The release of the six TERMS via the blog also encouraged other universities to share their workflows and discuss efficiencies; indeed, “rethinking e-resources workflows and developing practical tools to streamline and enhance various inelegant processes have become the priorities.” 29
Since the launch of the first draft of TERMS, the project has now attracted interest in various workflows from different libraries around the world, including the University of Cork, Duke University, Florida Gulf Coast University, and Texas A&M University.
A recent press release by Jisc in the United Kingdom suggested that international collaboration is needed to transform ERM in libraries—“Many of the concerns libraries have in the management of electronic resources are the same across the world”—and that projects such as GoKB and the Knowledge Base + service in the United Kingdom “are exploring community-based solutions.” 30
TERMS Wiki Investigating New Content for Purchase/Addition http://library.hud.ac.uk/wikiterms/Investigating_New_Content_for_purchase/addition Acquiring New Content http://library.hud.ac.uk/wikiterms/Acquiring_New_Content Implementation http://library.hud.ac.uk/wikiterms/Implementation Ongoing Evaluation and Access http://library.hud.ac.uk/wikiterms/Ongoing_Evaluation_and_Access Annual Review http://library.hud.ac.uk/wikiterms/Annual_Review Cancellation and Replacement Review http://library.hud.ac.uk/wikiterms/Cancellation_and_Replacement_Review
Graham Stone, “Resource Discovery,” in Digital Information: Order or Anarchy? ed. Hazel Woodward and Lorraine Estelle (London: Facet, 2009), 156 | |
Jisc Collections, “KB+ Phase One Deliverables, ” accessed December 6, 2012, www.jisc-collections.ac.uk/KnowledgeBasePlus/Phase_One_Deliverables | |
Kuali OLE, “International Collaboration to Help Transform the Way Libraries Manage Their Resources, ” news release, June 13, 2012, accessed November 11, 2012, http://gokb.org/post/25021222983/gobkpressrelease | |
School of Library and Information Studies at the University of Wisconsin, accessed November 11, 2012, www.slis.wisc.edu/administrative-forms/SLISFall2012Sched8-21-12.pdf | |
The authors presented at the 2012 LIBER conference: Graham Stone and Jill Emery, “Techniques in Electronic Resource Management (TERMS), ” poster presented at the 41st annual LIBER conference, June 27–30, 2012, University of Tartu, Estonia, accessed November 11, 2012, http://eprints.hud.ac.uk/12972 | |
Harrell, Jeanne. “Literature of Acquisitions in Review, 2008–9, ”Library Resources and Technical Services January 2012;56(no. 1):4–13. | |
Mosher, Paul H.. “Collection Development to Collection Management: Toward Stewardship of Library Resources, ”Collection Management 1982;4(no. 4):45.doi:10.1300/J105v04n04_04 | |
Peggy Johnson, Fundamentals of Collection Development and Management, 2nd ed. (Chicago: American Library Association, 2009), 1, online excerpt accessed November 11, 2012, www.alastore.ala.org/pdf/9780838909720_excerpt.pdf | |
Suzanne Mangrum and Mary Ellen Pozzebon. “Use of Collection Development Policies in Electronic Resource Management, ”Collection Building 2012;31(no. 3):113.doi:10.1108/01604951211243506 | |
Thomas, Marcia L.. “Disruption and Disintermediation: A Review of the Collection Development and Management Literature, 2009–10, ”Library Resources and Technical Services 2012;56(no. 3):188–190. | |
Ibid., 192 | |
Hazen, Dan. “Rethinking Research Library Collections: A Policy Framework for Straitened Times, and Beyond, ”Library Resources and Technical Services April 2010;54(no. 2):115–121. | |
Timothy D. Jewell, Selection and Presentation of Commercially Available Electronic Resources: Issues and Practices (Washington, DC: Digital Library Federation and Council on Library and Information Resources, July 2001), accessed November 11, 2012, www.clir.org/pubs/abstract/pub99abst.html | |
Timothy D. Jewell, Ivy Anderson, Adam Chandler, Sharon E. Farb, Kimberly Parker, Angela Riggio, and Nathan D. M. Robertson, Electronic Resource Management: Report of the DLF ERM Initiative, executive summary (Washington, DC: Digital Library Federation, 2004), 1, accessed November 11, 2012, http://old.diglib.org/pubs/dlf102/dlfermi0408summ.pdf | |
Janice Adlington, Electronic Resources Management Systems: Potentials for Eresource Management: A White Paper (Nashville, TN: Vanderbilt Library, 2006), 3, accessed November 11, 2012, http://libstaff.library.vanderbilt.edu/rs/techserv/E-Resources/ERMSystems_Jan2007.pdf | |
Whitfield, Sharon. “Implementing CORAL: An Electronic Resource Management System, ”Computers in Libraries October 2011;31(no. 8):18–22. | |
Taylor, Donald; Dodd, Frances; Murphy, James. “Open-Source Electronic Resource Management System: A Collaborative Implementation, ”Serials Librarian 2010;58(no. 1–4):72.doi:10.1080/03615261003623039 | |
McQuillan, Bob. “Gateway to Improving ERM System Deliverables: NISO ERM Data Standards and Best Practices Review, ”Serials Librarian 2012;62(no. 1–4):112–124.doi:10.1080/0361526X.2012.652482 | |
Glasser, Sarah. “Broken Links and Failed Access, ”Library Resources and Technical Services 2012;56(no. 1):20. | |
Gustafson-Sundell, Nat. “Think Locally: A Prudent Approach to Electronic Resource Management Systems, ”Journal of Electronic Resources Librarianship 2011;23(no. 2):126–141.doi:10.1080/1941126X.2011.576955 | |
Ibid., 128-129 | |
Collins, Maria; Grogg, Jill E.. “Building a Better ERMS, ”Library Journal March 1, 2011;136(no. 4):22. | |
Leffler, Jennifer J..; Zuniga, Heidi A.. “Development and Use of License Forms for Libraries with and without Electronic Resource Management Systems, ”Technical Services Quarterly 2010;27(no. 3):284.doi:10.1080/07317131003765977 | |
Banoun, Susan; England, Deberah; Purtee, Sharon; Riggio, Angela; Schwartzkopf, Becky. “ERM Systems and Impact on Technical Services, ”Serials Librarian 2011;60(no. 1–4):138.doi:10.1080/0361526X.2011.556452 | |
Collins and Grogg, “Building a Better ERMS, ” 22 | |
NISO, “ERM Data Standards & Best Practices Review, ” accessed November 11, 2012, www.niso.org/apps/group_public/workgroup.php?wg_abbrev=ermreview | |
Angela Langley-Walker, “Post 1: Project Aims and Objectives, ” MERI: Managing Electronic Resource Issues (blog), University of Salford, July 1, 2010, accesssed December 10, 2012, http://salfordmeri.blogspot.com/2010/07/post-1-project-aims-and-objectives.html | |
SCONUL, “Workflows, ” Shared ERM Requirements Project (blog), May 20, 2011, accessed November 11, 2012, http://sconulerm.jiscinvolve.org/wp/2011/05/20/workflows | |
Han, Ning; Kerns, Rick. “Rethinking Electronic Resources Workflows, ”Serials Librarian 2011;61(no. 2):208.doi:10.1080/0361526X.2011.591042 | |
Jisc, “International Collaboration to Help Transform the Way Libraries Manage Their Resources, ” news release, June 13, 2012, accessed November 11, 2012, www.jisc.ac.uk/news/stories/2012/06/data.aspx |
fig1] | Figure 1.1 Pesch’s electronic resources life cycle. Source: Oliver Pesch, “Library Standards and E-Resource Management: A Survey of Current Initiatives and Standards Efforts,” 55, no. 3 (2008): 482, doi:10.1080/03615260802059965. |
| |
fig2] | Figure 1.2 The six TERMS |
|
Article Categories: |
You are accessing a machine-readable page. In order to be human-readable, please install an RSS reader.
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess .
Feature papers represent the most advanced research with significant potential for high impact in the field. A Feature Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for future research directions and describes possible research applications.
Feature papers are submitted upon individual invitation or recommendation by the scientific editors and must receive positive feedback from the reviewers.
Editor’s Choice articles are based on recommendations by the scientific editors of MDPI journals from around the world. Editors select a small number of articles recently published in the journal that they believe will be particularly interesting to readers, or important in the respective research area. The aim is to provide a snapshot of some of the most exciting work published in the various research areas of the journal.
Original Submission Date Received: .
Find support for a specific problem in the support section of our website.
Please let us know what you think of our products and services.
Visit our dedicated information section to learn more about MDPI.
Coronary artery aneurysms: a clinical case report and literature review supporting therapeutic choices.
1.1. definition and classification of coronary artery aneurysms, 1.2. risk factors, 1.3. clinical presentation, 1.4. diagnostic skills, 1.5. treatment, 1.6. caas in kawasaki disease, 2. clinical case presentation, 2.1. medical history, 2.2. examinations, 2.3. management, 3. conclusions, author contributions, conflicts of interest.
Click here to enlarge figure
The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content. |
Sannino, M.; Nicolai, M.; Infusino, F.; Giulio, L.; Usai, T.L.; Biscotti, G.; Azzarri, A.; De Angelis D’Ossat, M.; Calcagno, S.; Calcagno, S. Coronary Artery Aneurysms: A Clinical Case Report and Literature Review Supporting Therapeutic Choices. J. Clin. Med. 2024 , 13 , 5348. https://doi.org/10.3390/jcm13185348
Sannino M, Nicolai M, Infusino F, Giulio L, Usai TL, Biscotti G, Azzarri A, De Angelis D’Ossat M, Calcagno S, Calcagno S. Coronary Artery Aneurysms: A Clinical Case Report and Literature Review Supporting Therapeutic Choices. Journal of Clinical Medicine . 2024; 13(18):5348. https://doi.org/10.3390/jcm13185348
Sannino, Michele, Matteo Nicolai, Fabio Infusino, Luciani Giulio, Tommaso Leo Usai, Giovanni Biscotti, Alessandro Azzarri, Marina De Angelis D’Ossat, Sergio Calcagno, and Simone Calcagno. 2024. "Coronary Artery Aneurysms: A Clinical Case Report and Literature Review Supporting Therapeutic Choices" Journal of Clinical Medicine 13, no. 18: 5348. https://doi.org/10.3390/jcm13185348
Article access statistics, further information, mdpi initiatives, follow mdpi.
Subscribe to receive issue release notifications and newsletters from MDPI journals
This paper sheds light on the intermediation of corporate and national governance systems as surveillance mechanisms, similar to Foucault’s panopticon, to produce stakeholders’ interest alignment as well as beneficial outcomes of earnings management practices of firms which have significant growth opportunities. The research included 104 companies that are listed on the stock markets of nine sub-Saharan African countries. Data was gathered from annual reports spanning the years 2007–2019, resulting in a total of 1044 firm-year observations. Panel data models were employed for the analysis. The study finds that, in line with the political cost hypothesis, there is a negative association between a firm’s growth opportunities and its accrual earnings management practices which suggest that growth firms are more inclined to utilise income decreasing accruals to deflect political attention and costs. The interaction effects of corporate and national governance systems tend to be the balancing act which realigns management’s actions in line with expectations much like the panopticon’s watchtower in Foucault’s theory which has useful policy implications. The current study is unique in that, it expands our understanding of the role governance plays in the firm growth—earnings management nexus using a novel lens of the Foucauldian panopticon theory.
This is a preview of subscription content, log in via an institution to check access.
Subscribe and save.
Price includes VAT (Russian Federation)
Instant access to the full article PDF.
Rent this article via DeepDyve
Institutional subscriptions
Source: Authors conceptual framework of the mechanism of governance surveillance on firm behaviours and decisions
The data that supports the findings of this study were obtained from three sources, namely: africanfinancials.com, machameratios.company.site and World Bank’s World Governance Indicators (WGI). These data can be made available on demand by email to the corresponding author.
Normally, companies in Africa which have significant growth prospects (which we refer herein as “growth-firms”) are those that often get listed on organised exchanges for the attraction of capital to fund their growth.
CACG refers to the Commonwealth Association for Corporate Governance, which have been promoting best practice corporate governance principles among Commonwealth nations.
OECD refers to the Organisation for Economic Cooperation and Development which have developed a Corporate Governance Factbook 2019. www.oecd.org/corporate/corporate-governance-factbook.htm .
According to Kaufmann et al. ( 2011 , p. 4), Government Effectiveness index captures “the quality of public services, the quality the civil service and the degree of its independence from political pressures, the quality of policy formulation and implementation, and the credibility of the government's commitment to such policies”. Regulatory Quality index captures “the ability of the government to formulate and implement sound policies and regulations that permit and promote private sector development”. Rule of Law index captures “the extent to which agents have confidence in and abide by the rules of society, and in particular the quality of contract enforcement, property rights, the police, and the courts, as well as the likelihood of crime and violence”.
Abdullah WAW, Percy M, Stewart J (2015) Determinants of voluntary corporate governance disclosure: evidence from Islamic banks in the Southeast Asian and the Gulf Cooperation Council regions. J Contemp Account Econ 11(3):262–279
Article Google Scholar
Aguilera RV, Desender K, Bednar MK, Lee JH (2015) Connecting the dots: bringing external corporate governance into the corporate governance puzzle. Acad Manag Ann 9(1):483–573
Ajay R, Madhumathi R (2015) Institutional ownership and earnings management in India. Indian J Corp Govern 8(2):119–136. https://doi.org/10.1177/0974686215602368
Alhadab M, Clacher I (2018) The impact of audit quality on real and accrual earnings management around IPO. Br Account Rev 50(4):442–461. https://doi.org/10.1016/j.bar.2017.12.003
Al-Haddad L, Whittington M (2019) The impact of corporate governance mechanisms on real and accrual earnings management practices: evidence from Jordan. Corp Govern 19(6):1167–1186
Almasarwah A (2015) Earnings management and its relationship with corporate governance mechanisms in Jordanian industrial firms [Doctoral thesis, Loughborough University]
Almustafa H, Kijkasiwat P, Jreisat A, Al-Mohamad S, Khaki AR (2023) Corporate risk-taking and national governance quality: empirical evidence from MENA emerging markets. Cogent Bus Manag 10(1):2156141. https://doi.org/10.1080/23311975.2022.2156141
AlNajjar F, Riahi-Belkaoui A (2001) Growth opportunities and earnings management. Manag Finance 27(12):72–81
Google Scholar
Al-Zaqeba M, Al-Khawaja HA (2022) The impact of growth opportunities on earnings management practices: evidence from Jordan. J Admin Sci Fintech 2(1):1–9
Amir A, Shaari H, Mohd A (2019) Ownership structure and real earnings management in Malaysian corporation. In: Paper presented at the E-proceedings of the international conference on economic, entrepreneurship and management (ICEEM2019) Paper ID: 017-011
Anderson A, Gupta PP (2009) A cross-country comparison of corporate governance and firm performance: do financial structure and the legal system matter? J Contemp Account Econ 5(2):61–79
Andrikopoulos A, Samitas A, Bekiaris M (2014) Corporate social responsibility reporting in financial institutions: evidence from Euronext. Res Int Bus Finance 32:27–35
Aslan H, Kumar P (2014) National governance bundles and corporate agency costs: a cross-country analysis. Corp Govern 22(3):230–251
Ball R, Kothari SP, Robin A (2000) The effect of international institutional factors on properties of accounting earnings. J Account Econ 29(1):1–51
Bansal M (2023) Earnings management: a three decade analysis and future prospects. J Account Lit. https://doi.org/10.1108/JAL-10-2022-0107
Bassiouny SW, Soliman MM, Ragab A (2016) The impact of firm characteristics on earnings management: an empirical study on the listed firms in Egypt. Bus Manag Rev 7(2):91–101
Baum CF, Schaffer ME, Stillman S (2007) Enhanced routines for instrumental variables/generalized method of moments estimation and testing. Stand Genom Sci 7(4):465–506
Beneish MD (2001) Earnings management: a perspective. Manag Finance 27(12):3–17
Bens DA, Nagar V, Wong MHF (2002) Real investment implications of employee stock option exercises. J Account Res 40(2):359–393
Biswas PK (2013) Corporate governance and its determinants in emerging countries: a case study of Bangladesh. Available at SSRN 2213702
Biswas S, Bhattacharya M, Sadarangani PH, Jin JY (2022) Corporate governance and earnings management in banks: an empirical evidence from India. Cogent Econ Finance 10(1):2085266. https://doi.org/10.1080/23322039.2022.2085266
Boachie C, Mensah E (2022) The effect of earnings management on firm performance: the moderating role of corporate governance quality. Int Rev Financ Anal 83:102270. https://doi.org/10.1016/j.irfa.2022.102270
Brown P, Beekes W, Verhoeven P (2011) Corporate governance, accounting and finance: a review. Account Finance 51(1):96–172
Cadbury A (2002) Corporate governance and chairmanship - a personal view. Oxford University Press, Oxford, pp 1–5
Callao S, Jarne JI, Wróblewski D (2014a) Debates and studies on earnings management: a geographical perspective. Zeszyty Teoretyczne Rachunkowości 75(131):145–169
Callao S, Jarne JI, Wróblewski D (2014b) The development of earnings management research: a review of literature from three different perspectives. Zeszyty Teoretyczne Rachunkowości 79(135):135–177
Callao S, Jarne JI, Wróblewski D (2021) A systematic approach to the motivations for earnings management: a literature review. Int J Emerg Trends Soc Sci 10(1):1–20
Collins DW, Pungaliya RS, Vijh AM (2017) The effects of firm growth and model specification choices on tests of earnings management in quarterly settings. Account Rev 92(2):69–100
Dechow PM (1994) Accounting earnings and cash flows as measures of firm performance: the role of accounting accruals. J Account Econ 18(1):3–42
Dechow PM, Dichev ID (2002) The quality of accruals and earnings: the role of accrual estimation errors. Account Rev 77(s-1):35–59
Dechow PM, Sloan RG, Sweeney AP (1995) Detecting earnings management. Account Rev 70(2):193–225
Dittmar A, Mahrt-Smith J (2007) Corporate governance and the value of cash holdings. J Financ Econ 83(3):599–634
Dokas I (2023) Earnings management and status of corporate governance under different levels of corruption—an empirical analysis in European countries. J Risk Financ Manag 16:458. https://doi.org/10.3390/jrfm16100458
Farooqi J, Harris O, Ngo T (2014) Corporate diversification, real activities manipulation, and firm value. J Multinatl Financ Manag 27:130–151. https://doi.org/10.1016/j.mulfin.2014.06.010
Feng Z-Y, Huang H-W (2020) Corporate governance and earnings management: a quantile regression approach. Int J Financ Econ. https://doi.org/10.1002/ijfe.2054
Foucault M (1991) Discipline and punish: the birth of the prison. Penguin, London
Galič M, Timan T, Koops BJ (2017) Bentham, Deleuze and beyond: an overview of surveillance theories from the panopticon to participation. Philos Technol 30:9–37
Gillan SL (2006) Recent developments in corporate governance: an overview. J Corp Finance 12:381–402
Gombola MJ, Ho AYF, Huag CC (2016) The effect of leverage and liquidity on earnings and capital management: evidence from US commercial banks. Int Rev Econ Finance 43:35–58
González JS, García-Meca E (2014) Does corporate governance influence earnings management in Latin American markets? J Bus Ethics 121(3):419–440
Graham JR, Harvey CR, Rajgopal S (2005) The economic implications of corporate financial reporting. J Account Econ 40(1–3):3–73
Gross C, Wagenhofer A, Windisch D (2024) Internal performance measures and earnings management: evidence from segment earnings. Account Rev 99(1):259–283. https://doi.org/10.2308/TAR-2019-0155
Gujarati D (2004) Basic econometrics, 4th edn. The McGraw-Hill, New York
Heycox J (1999) Integrating data for sustainable development: introducing the distribution of resources framework. In: Novartis Foundation Symposium 220, Environmental Statistics – Analysing Data for Environmental Policy. Wiley, London
Huang SY, Chung Y-H, Chiu YC (2015) Growth opportunity and risk: empirical investigation on earnings management decision. Invest Manag Financ Innov 12(1–2):299–309
Isha MD (2023) Influence of company characteristics on earnings management in group affiliated and standalone firms: evidence from India. Bus Perspect Res. https://doi.org/10.1177/22785337221148543
Jategaonkar SP, Lovata LM, Song X (2023) Growth opportunities and earnings management by cross-listed and U.S. firms. J Econ Finance 47:157–183. https://doi.org/10.1007/s12197-022-09599-3
Jensen M, Meckling W (1976) Theory of the firm: managerial behavior, agency costs and ownership structure. J Financ Econ 3(4):305–360
Jones JJ (1991) Earnings management during import relief investigations. J Acc Res 29(2):193–228
Juodis A, Reese S (2022) The incidental parameters problem in testing for remaining cross-section correlation. J Bus Econ Stat 40(3):1191–1203
Kallapur S, Trombley MA (1999) The association between investment opportunity set and realized growth. J Bus Financ Account 26(3–4):505–519
Kaufmann D, Kraay A, Mastruzzi M (2011) The worldwide governance indicators: methodology and analytical issues1. Hague J Rule Law 3(2):220–246
Kazemian S, Sanusi ZM (2015) Earnings management and ownership structure. Procedia Econ Finance 31:618–624
Keefe T (2013) Earnings quality. Investopedia. http://www.investopedia.com/university/accounting-earnings-quality/
Key KG, Kim JY (2020) IFRS and accounting quality: additional evidence from Korea. J Int Account Audit Tax 39:100306. https://doi.org/10.1016/j.intaccaudtax.2020.100306
Khan Y (2012) Financial reporting and analysis. Institute of Chartered Secretaries and Administrators, London ( ISBN: 978-1860724855 )
Khan HR, Khidmat WB, Al Hares O, Muhammad N, Saleem K (2020) Corporate governance quality, ownership structure, agency costs and firm performance. Evidence from an emerging economy. J Risk Financ Manag 13(7):154. https://doi.org/10.3390/jrfm13070154
Khuong NV, Anh LHT, Van NTH (2022) Firm life cycle and earnings management: the moderating role of state ownership. Cogent Econ Finance 10(1):2085260. https://doi.org/10.1080/23322039.2022.2085260
Klein A (2002) Audit committee, board of director characteristics, and earnings management. J Account Econ 33(3):375–400
Kothari SP, Leone AJ, Wasley CE (2005) Performance matched discretionary accrual measures. J Account Econ 39(1):163–197
La Porta R, Lopez-de-Silanes F, Shleifer A, Vishny RW (1997) Legal determinants of external finance. J Finance 52(3):1131–1150. https://doi.org/10.1111/j.1540-6261.1997.tb02727.x
Larcker DF, Richardson SA, Tuna IR (2007) Corporate governance, accounting outcomes, and organizational performance. Account Rev 82(4):963–1008
Leuz C, Nanda D, Wysocki PD (2003) Earnings management and investor protection: an international comparison. J Financ Econ 69(3):505–527
Li L, Kuo C-S (2017) CEO equity compensation and earnings management: the role of growth opportunities. Finance Res Lett 20:289–295
Liu C, Yao L, Hu N, Liu L (2011) The impact of IFRS on accounting quality in a regulated market: an empirical study of China. J Account Audit Finance 26(4):659–676
Lo A, Wong R, Firth M (2010) Can corporate governance deter management from manipulating earnings? Evidence from related-party sales transactions in China. J Corp Finance 16:225–235
Lourenco IC, Rathke VS, Branco MC (2018) Corruption and earnings management in developed and emerging countries. Corp Govern 18(1):35–51
Machuga S, Teitel K (2007) The effects of the Mexican corporate governance code on quality of earnings and its components. J Int Account Res 6(1):37–55. https://doi.org/10.2308/jiar.2007.6.1.37
Manly BF, Alberto JAN (2016) Multivariate statistical methods: a primer. Chapman and Hall/CRC
Martens W, Yapa P, Safari M (2021) Earnings management in frontier market: do institutional settings matter? Economies 9(1):17. https://doi.org/10.3390/economies9010017
Mensah E (2021) The effect of IFRS adoption on financial reporting quality: evidence from listed manufacturing firms in Ghana. Econ Res 34(1):2890–2905. https://doi.org/10.1080/1331677X.2020.1860109
Mensah E, Boachie C (2023a) Analysis of the determinants of corporate governance quality: evidence from Sub-Saharan Africa. Int J Disclos Govern. 20(4):431–450. https://doi.org/10.1057/s41310-023-00185-5
Mensah E, Boachie C (2023b) Corporate governance mechanisms and earnings management: the moderating role of female directors. Cogent Bus Manag 10(1):2167290. https://doi.org/10.1080/23311975.2023.2167290
Mensah E, Mensah RO, Danquah DA (2023) A comparison of accruals models in earnings management determinants: evidence from Anglophone Sub-saharan African countries. In: Paper published in conference proceedings of the 10th international scientific conference “Finance Economic and Tourism (FET2022).” https://fet.unipu.hr/fet2022/about_the_conference/conference_proceedings
Misi Lopes LE, Packham N, Walther U (2023) The effect of governance quality on future economic growth: an analysis and comparison of emerging market and developed economies. SN Bus Econ 3(6):108. https://doi.org/10.1007/s43546-023-00488-3
Monti-Belkaoui J, Riahi-Belkaoui A (1999) The nature, estimation and management of political risk. Greenwood Publishing, Westport
Ngobo PV, Fouda M (2012) Is ‘Good’ governance good for business? A cross-national analysis of firms in African countries. J World Bus 47(3):435–449
Nguyen Q, Kim M, Ali S (2024) Corporate governance and earnings management: evidence from Vietnamese listed firms. Int Rev Econ Finance 89:775–801
Nguyen T, Locke S, Reddy K (2015) Ownership concentration and corporate performance from a dynamic perspective: does national governance quality matter? Int Rev Financ Anal 41(1):148–161. https://doi.org/10.1016/j.irfa.2015.06.005
Nsour MF, Al-Rjoub SA (2022) Building a corporate governance index (JCGI) for an emerging market: Case of Jordan. Int J Discl Gov 19(2):232–248. https://doi.org/10.1057/s41310-021-00139-9
Pae J (2005) Expected accrual models: the impact of operating cash flows and reversals of accruals. Rev Quant Financ Acc 24(1):5–22
Peltzman S (1976) Toward a more general theory of regulation. J Law Econ 19:211–240
Pesaran MH (2021) General diagnostic tests for cross-sectional dependence in panels. Empir Econ 60:13–50
Pham N, Oh KB, Pech R (2015) Mergers and acquisitions: CEO duality, operating performance and stock returns in Vietnam. Pac Basin Financ J 35:298–316. https://doi.org/10.1016/j.pacfin.2015.01.007
Pindyek Robert S (1988) Irreversible investment, capacity choice and the value of the firm. Am Econ Rev 78(5):969–985
Proimos A (2005) Strengthening corporate governance regulations. J Invest Compl 6(4):75–84
Prommin P, Jumreornvong S, Jiraporn P (2012) Liquidity, ownership structure, and corporate governance. In: Pennsylvania State University, School of Graduate Professional Studies Working paper
Prommin P, Jumreornvong S, Jiraporn P (2014) The effect of corporate governance on stock liquidity: the case of Thailand. Int Rev Econ Finance 32:132–142
Prommin P, Jumreornvong S, Jiraporn P, Tong S (2016) Liquidity, ownership concentration, corporate governance, and firm value: evidence from Thailand. Glob Finance J 31:73–87
Razul A, Gomes O, Gulamhussen MA (2023) Bonuses, options, and bank strategies. SN Bus Econ 4(1):7. https://doi.org/10.1007/s43546-023-00608-z
Robin A, Wu Q (2015) Firm growth and the pricing of discretionary accruals. Rev Quant Financ Acc 45:561–590
Sawicki J (2009) Corporate governance and dividend policy in Southeast Asia pre-and post-crisis. Eur J Finance 15(2):211–230. https://doi.org/10.1080/13518470802604440
Schultz EL, Tan DT, Walsh KD (2010) Endogeneity and the corporate governance-performance relation. Aust J Manag 35(2):145–163
Sharma S (1996) Applied multivariate techniques. Wiley, NY
Shleifer A, Vishny RW (1997) A survey of corporate governance. J Finance 52(2):737–783
Singh R (2017) The Wiley 2017 interpretation and application of IFRS standards. Delhi Bus Rev 18(2):115–116
Stigler GJ (1971) The theory of economic regulation. Bell J Econ Manag Sci 2:3–21
Tang HW (2012) Can corporate governance discipline opportunistic earnings management during IPO process? Int J Revenue Manag 6(3–4):199–220
Tang HW, Chang CC (2015) Does corporate governance affect the relationship between earnings management and firm performance? An endogenous switching regression model. Rev Quant Financ Acc 45(1):33–58. https://doi.org/10.1007/s11156-013-0427-z
Van Essen M, Engelen PJ, Carney M (2013) Does “good” corporate governance help in a crises? The impact of country and firm-level governance mechanisms in the European financial crises. Corp Govern 21(3):201–224. https://doi.org/10.1111/corg.12010
Viana DBC, Lurenco I, Black EI (2022) Financial distress, earnings management and Big 4 auditors in emerging markets. Account Res J 35(5):660–675. https://doi.org/10.1108/ARJ-06-2021-0165
Ward AJ, Brown JA, Rodriguez D (2009) Governance bundles, firm performance, and the substitutability and complementarity of governance mechanisms. Corp Govern 17(5):646–660
Watts RL, Zimmerman JL (1978) Towards a positive theory of the determination of accounting standards. Account Rev 53(1):112–134
Wooldridge JM (2002) Econometric analysis of cross section and panel data. MIT Press, Cambridge
Yamen A, Can G (2023) The impact of public governance perception on the quality of financial reporting. Econ Res 36(3):2223264. https://doi.org/10.1080/1331677X.2023.2223264
Yamen A, Kuzey C, Dinc MS (2022) Culture, institutional quality and earnings management: an international evidence. EuroMed J Bus 17(1):72–87. https://doi.org/10.1108/EMJB-06-2020-0068
Yan H, Liu Z, Wang H, Zhang X, Zheng X (2022) How does the COVID-19 affect earnings management: empirical evidence from China. Res Int Bus Finance 63:101772. https://doi.org/10.1016/j.ribaf.2022.101772
Zhang Y, Uchida K (2014) Corporate governance, investor protection and earnings management: new international evidence. Working paper no. 1–43
Download references
We acknowledge the insightful comments of editors of this journal and anonymous reviewers towards improving the quality of our paper.
No funding was received.
Authors and affiliations.
Department of Accounting, Faculty of Accounting and Finance, University of Professional Studies, Accra, Madina, Ghana
Emmanuel Mensah & Peter Ackah
Board Member and Head of Scientific Committee, The Saudi Economic Association, Riyadh, Saudi Arabia
Mamdouh Abdulaziz Saleh Al-Faryan
You can also search for this author in PubMed Google Scholar
All authors contributed to the study conception and design. Data collection and data curation as well as visualization were performed by [EM and PA], software, material preparation and formal analysis were performed by [EM], whereas manuscript review and editing was performed by [MASA]. Also, validation was performed by [MASA]. The first draft of the manuscript was written by [EM] and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
Correspondence to Emmanuel Mensah .
Conflict of interest.
The authors report no potential conflict of interest.
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
Reprints and permissions
Mensah, E., Ackah, P. & Al-Faryan, M.A.S. Firms growth opportunities and accruals earnings management nexus: does corporate and national governance systems play a role?. SN Bus Econ 4 , 115 (2024). https://doi.org/10.1007/s43546-024-00700-y
Download citation
Received : 15 April 2024
Accepted : 02 August 2024
Published : 12 September 2024
DOI : https://doi.org/10.1007/s43546-024-00700-y
Anyone you share the following link with will be able to read this content:
Sorry, a shareable link is not currently available for this article.
Provided by the Springer Nature SharedIt content-sharing initiative
Orphanet Journal of Rare Diseases volume 19 , Article number: 328 ( 2024 ) Cite this article
Metrics details
The ability to find, understand, appraise and utilise health information is crucial among individuals living with rare disorders. The aim of this study was to give a comprehensive overview of the literature on health literacy in adult persons with rare disorders.
We applied a scoping review methodology and performed a systematic search in 2021 in bibliographic databases. Searches were conducted in Medline (Ovid), Embase (Ovid), PsycInfo (Ovid), CINAHL (ebsco), and ERIC (Ovid). References were sorted and evaluated for inclusion using EndNote and Covidence. This review was guided by the question “What are the characteristics of research on health literacy in rare disorders?”
The database searches yielded 75 eligible reports. A total of 6223 individuals with rare disorders were represented alongside 1707 caregivers. The reports in this review have included study participants representing a total of 80 different rare disorders with unique ORPHA and ICD-10 codes. The results revealed that persons with rare disorders often exhibit gaps in health literacy through a lack of knowledge and access to information related to self-management, their own diagnosis and health, as well as daily coping and social rights. In addition, the importance of aid and information from healthcare personnel and the significance of getting social support from others in the same situation were accentuated.
This review emphasizes the importance of reinforcing health literacy among persons with rare disorders through peer support and education. This is the first review to give a comprehensive and state-of-the-art overview of literature investigating health literacy among persons with rare disorders and offers a basis for further research.
In Europe, a disorder is considered rare when it affects less than 1:2000 individuals [ 1 ]. According to current calculations, more than 7000 different rare disorders have been identified. However, it is plausible that the actual number may be as high as 10,000 [ 2 ]. Although each rare disorder affects a limited quantity of individuals, it is estimated that the combined prevalence of all rare diseases is 3,5–5,9% [ 3 ]. Accordingly, up to 36 million people residing in the European Union are living with a rare disease [ 4 ]. Out of the total rare disorders, 72% have a genetic aetiology, and 70% have childhood onset [ 3 ]. Whilst there is a large clinical diversity between the rare disorders, they tend to have some aspects in common; they are known for being chronic, complicated, mostly degenerating, and often disabling [ 5 ].
Persons with rare disorders face some unique challenges in accessing information on their diagnosis, which may lead to issues in making beneficial health choices regarding treatment and care [ 6 ]. A key issue with rare disorders is the lack of research in the field [ 7 , 8 ]. Insufficient evidence and knowledge on rare diseases in general pose challenges both for professionals and people with these diseases [ 8 ]. Due to healthcare professionals’ limited understanding of their rare disorder in general, as well as a lack of information provided, persons with rare disorders often need to search for health-related information themselves [ 6 ]. A systematic review published in 2017 aimed to provide an overview of adults` shared experience of living with a rare disorder, found that in 12 out of 21 reports, persons with rare disorders reported progressively becoming “experts” on their own diagnosis [ 9 ]. In some cases, those living with rare disorders possess more information about the condition than the healthcare professionals they encounter [ 10 ].
Healthcare systems are increasingly challenging to navigate [ 11 ]. Simultaneously, the healthcare services share prospective aims of prioritising digitization, enabling more home-based care, promoting shared decision-making, and ensuring equitable access to services [ 5 , 12 , 13 ]. Managing one’s health while dealing with a rare disorder and the responsibility of seeking information can be especially demanding due to the challenging standards set by the healthcare system [ 6 ].
Increased participation and responsibility for one’s own health impose a demand on the individual to have adequate health literacy. Health literacy pertains to individuals’ ability to manage the complex health requirements of today’s society and make informed decisions regarding health [ 14 ]. This includes understanding the factors that affect one’s health, addressing health challenges, and making appropriate health choices. There is a lack of consensus on the definition of health literacy, and multiple interpretations have been made [ 14 ]. A review by Sørensen et al. [ 15 ] identified as many as 17 different definitions of health literacy and created a working definition of health literacy by considering the contents of each interpretation. The inclusive definition according to Sørensen et al. is stated as follows:
“Health literacy is linked to literacy and entails people’s knowledge , motivation and competencies to access , understand , appraise , and apply health information in order to make judgments and take decisions in everyday life concerning healthcare , disease prevention and health promotion to maintain or improve quality of life during the life course.” (ref p. 3).
Along with the comprehensive definition, Sørensen et al. developed an integrated model of health literacy [ 15 ]. The model has been widely used to understand the complex interaction between individual skills and abilities related to health literacy, social and environmental factors, and health outcomes. The core elements of the model are four cognitive competencies; to access, understand, appraise, and apply health-related information. These four competencies allow a person to manoeuvre three identified domains on the health spectrum: healthcare, disease prevention, and health promotion. The model suggests that an individual’s ability to access and use health information is determined by their own skills, motivation, and knowledge as well as the social and environmental context they reside within. These conditions, accordingly, affect individuals’ ability to address their health and ultimately impact their health outcomes.
Sorensen’s model emphasises that components such as empowerment, health outcomes, and health behaviour are interlaced and connected to an individual’s health literacy. Enhancing the level of health literacy allows individuals to become more empowered and take charge of their health, participate in health-promoting behaviours, and gradually attain improved health outcomes [ 15 ]. Thus, participation and empowerment can give persons with rare disorders enhanced control over their own health and treatment, and increased involvement in decision-making processes that concern their health. This may lead to better health outcomes and elevated health-related quality of life, which remain crucial as persons with rare disorders report lower quality of life compared to those with more common chronic conditions [ 16 ]. They can feel stigmatised and marginalised in the healthcare system, and it can be challenging to find psychosocial support. Examining how to increase health literacy and empowerment for persons with rare disorders can therefore be an important and relevant direction for further research. Health literacy of individuals with rare disorders is an emerging field of research, and the literature is based on a wide range of study methodologies [ 7 , 8 ]. Hence, this scoping review aims to give a comprehensive overview of empirical reports (from primary research studies) investigating health literacy among persons with rare disorders as reported in the international literature, by identifying characteristics of definitions, study populations, methods and interventions.
The scoping review process described by Arksey and O`Malley [ 17 ] aims to: “(…) map rapidly the key concepts underpinning a research area and the main sources and types of evidence available and can be undertaken as a stand-alone project in their own right , especially where an area is complex or has not been reviewed comprehensively before. ” A scoping review methodology is also suitable for examining the extent, range, variety, and characteristics of evidence on a topic, but also to identify research gaps. This scoping review was conducted according to the five-stage framework by Arksey and O`Malley [ 17 ], enhanced by Levac [ 18 ] and Daudt [ 19 ] and reported according to the PRISMA Extension for Scoping Reviews [ 20 ] (shown in Additional file 1 ). A protocol for this review is available on request.
The aim of this review was to identify the characteristics of research on health literacy in rare disorders. The specific research questions were:
What are the characteristics of study populations?
When and where have reports on health literacy been carried out?
What are the characteristics of research questions used to investigate health literacy?
What are the characteristics of methods used to investigate health literacy?
What are the characteristics of assessment tools used to measure health literacy?
What are the characteristics of interventions that have been described in the reports?
How is health literacy defined or described in the reports?
How is access to health information and support for individuals with rare disorders described the reports?
The study group in this scoping review included one co-researcher, one with experiential knowledge trained in research methods, several experienced healthcare professionals in the field of rare disorders, working in clinical practice (specialized health care), and experienced researchers in health literacy and scoping review methodology. All members have been involved in all stages of the review process.
This scoping review included primary research reports that investigated health literacy in adults with rare disorders. Reports were included if they had investigated the individual`s capacities, skills and motivation to make judgements and decisions in everyday life concerning healthcare, disease prevention and health promotion in persons with a rare disorder. While being 18 years of age or older was set as a search criterion, reports that included both adults and persons below 18 were not excluded. Empirical reports in English and Scandinavian languages published in peer-reviewed journals were included. All study designs were included. Dissertations, reports published in abstract form only, editorials, commentaries and duplicates were excluded.
In the first stage, research questions were developed by the study group in a highly iterative process. We agreed to apply a broad variety of synonyms, conducting many and extensive pilot searches and simultaneously enhancing the search strategy, and clarify the criteria for inclusion and exclusion of reports. A senior academic librarian, in close collaboration with the first author, developed a systematic literature search using MeSH-terms and free search terms combining a comprehensive set of synonyms and terms for health literacy and rare disorders. Both the librarian and the researchers in the study group had experience with previous literature searches in the field of rare disorders. The literature searches complied with the PICO principles and applied a combination of “OR” within groups and “AND” between groups. Searches were conducted in Medline (Ovid), Embase (Ovid), PsycInfo (Ovid), CINAHL (ebsco), and ERIC (Ovid) for publications between 2010 and 2021. No other sources for literature were searched for this review. The complete search strategy is displayed in Additional file 2 .
All titles and abstracts were reviewed by the first author (US) and one of the co-authors independently using the systematic review software Covidence (Veritas Health Innovation). Disagreements and conflicts were resolved through discussion with a third review author.
All data from the included reports were extracted according to study characteristics, participant characteristics included ORPHA and ICD-codes, description of interventions, methods, assessment tools, definitions and understanding of health literacy was collected using data extraction forms and reported separately for each study in evidence summaries (Supplementary Material 4 – 9 : Tables 2–6). A full reference list of included reports is presented in Additional file 3 . Extracted data is presented in a descriptive manner using text, tables and figures. All members of the study group participated in the data extraction. We did not attempt to contact the authors in this review process.
The search of the online databases resulted in 5999 reports when duplicates were removed. From these, 5794 were excluded because they did not fulfil the inclusion criteria. A total of 177 reports were downloaded in full text and read by two authors. Of these, 102 reports were excluded, leaving 75 to undergo analysis in this review (Fig. 1). All the included reports were in English language.
Prisma flow diagram
A total of 6223 persons with a rare disorder and 1707 caregivers were represented in the 75 included reports. About 70% of the reports were based on data from samples with less than 100 participants. About 15% of the reports were based on samples with more than 200 participants. Of the included participants in the reports, about 60% were female. Of the reports that reported the mean age of the participants, approximately 75% of the participants were between 30 and 50 years of age. About 15% of the reports had participants with a mean age over 55 years, and eleven reports had participants with a mean age under 25 years.
The reports in this review have included study participants representing a total of 80 different rare disorders with unique ORPHA and ICD-10 codes. A detailed description of diagnoses is given in Table 1 (Additional file 4 ). Five of the reports included participants across rare disorders but did not specify what type of disorders. Most of the rare disorders had been investigated in one or two reports, but a few disorders were investigated in several reports: different types of Hemophilia were investigated in 24/75 reports, Cystic Fibrosis in 14/75 reports, Huntington’s disease in 7/75 reports, Scleroderma in 4/75 reports and Myotonic dystrophy type 1, Neurofibromatosis type 1 and Spina bifida in 3/75 reports.
Of the 75 included reports, 21 were conducted in the USA, 11 in Canada and eight in the UK (see Table 2 for details in Additional file 9 ). The included reports were published between 2010 and 2021, 54/75 after 2016.
The research questions most frequently investigated among the included reports were related to assessments of experienced knowledge and different health- and/or psychosocial outcomes (31/75). The second most investigated research questions (27/75) were about persons with rare disorders’ views, experiences and understanding of their own condition, care, health information, management, transition process or peer support (see Table 6 for details in Additional file 8 ). In addition, 16 reports were conducted to evaluate an intervention aimed to improve or strengthen participants` knowledge, health literacy or coping, and therefore included in this review.
Of the included reports, 28/75 applied a quantitative cross-sectional design to explore characteristics of patient groups in terms of knowledge and disease-related variables. Among the cross-sectional reports, both digital and paper-based surveys were used, and some gathered data through medical charts or personal interviews. In addition, fourteen reports applied an experimental design investigating either the feasibility or effects of specific interventions, mainly to increase knowledge or health literacy. Among the qualitative designs (28/75), individual interviews were frequently applied, less so focus groups. Most of the qualitative reports aimed to explore experiences and gain insight into the views of persons who are living with a rare disorder, for example, needs of information and support, barriers to care and communication with health care providers. To present the qualitative results, a thematic analysis approach was most frequently applied. A minority of reports (5/75) reported a mixed or multi-method approach, combining interviews and surveys (see Table 3 for more details, Additional file 5 ).
Five of the assessment tools measured health literacy specifically. However, 23 standardized assessment tools aimed to assess important aspects relevant to health literacy, such as self-management skills, coping and medication adherence. Table 4 provides an overview of the standardised assessment tools used to measure health outcomes (Additional file 6 ). Quality of life was the outcome assessed most frequently (10/75) and was most commonly assessed with SF36 (4/75). Seven reports examined anxiety levels, while six estimated depression. Hospital Anxiety and Depression Scale (HAD) was the most commonly utilized tool to assess anxiety and depression (3/75). Correspondingly, 27 study-specific assessment tools sought to achieve outcomes closely related to health literacy, including health information-seeking patterns, medication information sources and knowledge, attitude and behaviour towards their condition. For a more detailed review of study-specific assessment tools, see Table 5 (Additional file 7 ).
A total of 16/75 of the reports included interventions. Each intervention originated from a distinct study and had diverse characteristics in terms of study design, objectives, intended recipients, implementation settings, and delivery personnel, including healthcare professionals and peers. Additional information regarding this is provided in Table 6 (Additional file 8 ). The interventions encompassed both face-to-face approaches, such as individual sessions [ 21 , 22 , 23 , 24 , 25 , 26 , 27 ] and group-based patient education [ 22 , 26 , 28 , 29 , 30 , 31 , 32 , 33 , 34 ], and written information/online training [ 29 , 31 , 35 , 36 , 37 ]. The interventions took place in a variety of settings, including hospitals, clinics, and online platforms. The common thread between the interventions is that they all share the objective of enhancing patient outcomes and experiences through education, support, and empowerment. For example, they aim to improve knowledge, health literacy, and self-treatment skills, as well as to promote treatment adherence and reduce interruptions in care. In 9/16 interventions, the primary aim was to improve knowledge or understanding of the patient’s particular health condition or treatment. These nine interventions applied various components such as audiovisual materials, individualised training courses, or booklets. Out of those nine interventions, six demonstrated a significant ( p < 0.05) improvement in knowledge of the targeted health condition or treatment [ 21 , 25 , 28 , 32 , 36 , 37 ].
Out of all interventions, 5/16 aimed predominantly at reducing psychiatric symptoms, such as depression, anxiety, and somatic symptom severity. Several interventions displayed positive effects on mental health, including improvements in emotional health, coping strategies, and quality of life [ 22 , 26 , 28 , 29 , 32 , 33 , 35 ]. Examples of such interventions included group counselling and group mindfulness training. The interventions were evaluated using methods such as self-report questionnaires, physiological measures, and clinical assessments. The outcomes measured included improvements in physical health, mental health, quality of life, and social support.
Only 6/75 reports described in the introduction how they defined health literacy [ 21 , 38 , 39 , 40 , 41 , 42 ]. Five of these reports were based on the understanding and definition of health literacy as the cognitive and social skills that determine the motivation and ability of individuals to gain access to, understand and use information in ways that promote and maintain good health (WHO). One of the reports defined health literacy as “the patients’ skills on reading, listening, analysing decisions making and applying these skills to the situation related to health monitoring and coordination for strategy plan in term of health promotion” [ 42 ].
Most of the reports included in this review investigated knowledge or understanding of one’s own health and diagnosis, and access to health information. Persons with rare disorders commonly lack information about:
Own diagnosis and health [ 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 ].
Self-management and daily coping [ 6 , 10 , 54 , 59 , 60 , 61 , 62 , 63 ].
Medication, treatment options and research-based recommendations [ 6 , 10 , 28 , 51 , 64 , 65 , 66 , 67 ].
Peer and professional support [ 53 , 54 , 55 ].
Clinical trials and research [ 53 , 54 , 55 ].
Sexual knowledge [ 68 , 69 , 70 , 71 ].
Behaviour and attitude [ 28 , 72 , 73 ].
Social rights [ 28 , 60 ].
Pregnancy and childbirth [ 51 , 60 ].
Ageing [ 71 ].
Navigation and coordination [ 23 ].
The most important sources of health information summarized among the included reports were physicians, the internet, patient organizations and spouse/partner [ 74 , 75 , 76 ]. Transitions in life can be challenging and generate new needs for information and care. Three of the reports investigated the transition process from paediatric to adult services [ 23 , 77 , 78 ]. Persons with rare disorders and their family caregivers call for health information on various aspects of the disease burden including medical research and treatment, coping strategies, management, symptoms and general knowledge about the disease [ 57 , 63 ].
Only a few reports investigated how persons with rare disorders are navigating in healthcare and their experiences of healthcare services. These reports found that many persons with rare disorders feel let down by the system- and lack trust in the standards of health care [ 54 , 79 , 80 , 81 ]. Several reports described the frustration among persons with rare disorders because of a lack of knowledge about diagnosis and medication by healthcare professionals [ 54 , 56 , 59 , 62 , 73 , 81 , 82 ] and concerns about poor communication and information provision [ 83 ].
Some of the reports described the experiences of persons with rare disorders concerning limited access to peer- and professional support, like specialized care, treatment plans and access to peer groups [ 34 , 53 , 61 , 62 , 84 , 85 , 86 ]. Persons with rare disorders missed the engagement in health care to assist in their management of the disease [ 85 ], and one report claimed that hospital visits could be reduced with more information [ 52 ].
Several reports have investigated peer support [ 6 , 22 , 28 , 44 , 50 , 81 , 82 , 87 , 88 , 89 ]. Persons with rare disorders who connected and interacted with fellow individuals with rare disorders reported great improvements in overall health, disease severity, motivation to take care of health, emotional well-being and satisfaction with their primary treating physician [ 66 , 69 ].
This scoping review identified 75 reports presenting data on rare disorders and aspects of health literacy, thereby providing valuable insight into the characteristics of research in the field of health literacy in individuals with rare disorders. A total of 6223 individuals with rare disorders and 1707 caregivers were included, and 80 different rare disorders were represented. Most of the studies were published after 2016, and were conducted in the USA, Canada and UK. The most frequently investigated research questions were related to different health- and psychosocial outcomes, understanding of own condition, health information and support, or concerning evaluation of an intervention. The reports used a variety of research methodologies, including qualitative, quantitative, and mixed methods approaches. Cross-sectional designs were frequently employed to depict patient characteristics, knowledge and health-related variables, and qualitative designs were commonly used to capture the perspectives of persons living with rare disorders. In total 23 standardized assessment tools and 27 study-specific assessment used in the reports. Only five assessment tools measured health literacy specifically. Some of the reports also assessed interventions to improve elements such as knowledge, health literacy and coping strategies. These interventions encompassed both face-to-face approaches, such as individual sessions and group-based patient education.
Only six reports had described how they defined health literacy. Five of these reports were based on the understanding and WHO-definition of health literacy as the cognitive and social skills that determine the motivation and ability of individuals to gain access to, understand and use information in ways that promote and maintain good health (WHO). Concerning access to health information and support, the results revealed that individuals with rare disorders often exhibit gaps in knowledge and access to information related to self-management, their own diagnosis and health, as well as daily coping and social rights. In addition, the importance of aid and information from healthcare personnel and the significance of getting social support from others in the same situation were accentuated.
A recurring issue identified among the reports was that individuals with rare disorders consistently encounter challenges in accessing information on their own health and diagnosis, self-managing and coping [ 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 ]. This observation has been established in previous research and can sometimes be ascribed to a lack of knowledge among healthcare personnel [ 6 , 9 , 10 ]. The understanding and appraisal of health information could pose difficulties since the information available on rare conditions often is complex and contains medical terminology that is challenging to comprehend. This particularly applies to those with cognitive impairments, which pertains to 44% of the rare disease population [ 90 ]. More than 7000 rare disorders are identified, and only 80 of these disorders are represented in this review. More than 50% of the included reports have included study participants with Haemophilia, Cystic Fibrosis and Huntington’s disease, which means that a range of different rare disorders have not been included in health literacy research. A majority of the interventions in this study focused on increasing knowledge and understanding of one’s own health and treatment. Acquiring the skills to apply health knowledge to everyday life efficiently can profoundly impact health outcomes and is especially important when it comes to self-management, such as adherence to medication and treatment [ 15 , 91 , 92 , 93 , 94 , 95 ].
Another possible challenge related to access to information and support is the often-large geographical distances between persons with rare disorders. This may result in difficulties when it comes to meeting or participating in peer-support groups in person [ 96 ]. Peer interactions appear particularly important in this population [ 6 , 53 , 54 , 55 ], and several of the perceived benefits of the interventions in this review were associated with the recognition, acceptance and companionship encountered within peer-support groups [ 16 , 28 , 32 , 35 ]. Interestingly, none of the included reports explored the potential benefits of online peer support, which has been found to be an effective supplement to in-person meetings in people with other disorders.
While there is reason to believe that health literacy has a significant impact on health outcomes, only one of the included reports investigated this possible correlation, finding that individuals who possessed adequate health literacy displayed more favourable health-related outcomes [ 38 ]. In that report, the authors observed that individuals who possessed adequate health literacy displayed more favourable health-related outcomes. None of the included reports explored health literacy across various types of rare disorders. One prominent finding across the reviewed reports is the shortage of accessible health information specifically targeted towards individuals with rare conditions. There is a need to investigate if there are structural or social barriers that limit access to information and support for the population. Furthermore, it would be valuable to examine the underlying factors that impact health literacy in persons with rare disorders, including the association between health literacy and socio-demographic variables, health status, self-efficacy and health-related quality of life. Another potential research topic could be to evaluate the success of interventions aiming at improving health literacy in persons with rare disorders and their caregivers.
To the best of our knowledge, only four previous reports have explicitly aimed to examine the levels of health literacy in persons with rare disorders [ 38 , 39 , 40 , 42 ]. Furthermore, the data does not provide enough information to say anything about relatives’ health literacy. Enhancing health literacy is known to be an enabler for improved empowerment and participation, which is associated with positive health outcomes [ 13 , 94 ]. Empowerment is especially important in the field of rare disorders, due to the unique challenges of low prevalence, limited knowledge and expertise, and compromised quality of life [ 94 ].
To achieve a better understanding of health literacy in rare disorders, we could benefit from the incorporation of different perspectives, including those of persons with rare disorders, their family members and healthcare providers. We need future research on how different dimensions of health literacy, and interventions aiming to strengthen health literacy, influence health outcomes according to health care, disease prevention and health promotion. We need to achieve a deeper understanding of how the personal determinants of health literacy, such as individual skills and motivation, interact with situational determinants, such as social and environmental factors, to shape health outcomes. To properly address the executive challenges faced by persons with rare disorders we need a greater understanding of health literacy in rare disorders [ 28 ]. The integrated model of health literacy [ 15 ] can serve as a tool to point us in the right direction when designing future research projects.
The strength of our work lies in providing a comprehensive overview of the reported findings from research on health literacy in rare disorders. We conducted an up-to-date systematic search in five databases without restrictions. Despite using an array of synonyms in database searches to maximise the identification of relevant reports, the search terms used are not exhaustive. Hence, some reports may not have been detected. To reduce the risk of selection bias, two authors independently assessed the abstracts and reports in full text according to the a priori eligibility criteria. Further, in line with the scoping review framework, we have not evaluated the methodological quality or risk of bias among the included reports. This may be seen as a limitation; however, the purpose of scoping reviews is to give an overview of the available research literature, characterise a research area and pinpoint gaps in knowledge that should be addressed in future systematic reviews.
This review has important implications for practice. Healthcare does not offer curative treatment options for most rare disorders, and several reports suggest the development of consensus recommendations for care. To optimise health and secure continuity of care several reports included in this review recommend formalisation of the transition process through the courses of illness and life. Moreover, the results reveal that some of the key challenges for persons with rare disorders are related to important aspects of health literacy, such as accessing, understanding, and applying health information. Our findings indicate a need for strengthened health literacy in the rare disease population, that could be accomplished by developing health communication strategies tailored to the needs and preferences of persons with rare conditions. Healthcare personnel can play a significant role in enhancing health literacy, which is an additional implication for practice. Health care personnel can achieve this by offering clear and understandable health-related information and encouraging an active dialogue between patients and professionals. Another way for healthcare personnel to assist persons with rare disorders is by offering them the support needed to accept, cope, and effectively manage their condition [ 97 ].
This scoping review consists of 75 reports presenting data on rare disorders and aspects of health literacy, thereby providing valuable insight into the characteristics of research in the field of health literacy in individuals with rare disorders. In total, 6223 individuals with rare disorders and 1707 caregivers were included, and 80 different rare disorders were represented. Most of the studies were published after 2016, and were conducted in the USA, Canada and UK.
The findings of this scoping review demonstrate that persons with rare disorders experience considerable gaps in knowledge and information, particularly in relation to their own diagnosis and health, treatment options, self-management and coping strategies. Moreover, the lack of diagnosis-specific knowledge and limited information provided by healthcare professionals are identified as a common concern among persons with rare disorders. Access to, and understanding, health information is key aspects of health literacy. Therefore, our results imply a need for increased awareness regarding the state of health literacy among individuals with rare disorders. The points of view expressed in this review offer valuable perspectives that can help health personnel in outlining the communicative strategy when caring for individuals with rare disorders.
This review provides a solid understanding block for future research into the emerging field of health literacy in rare disorders, by examining the challenges that persons with rare conditions encounter. Moreover, the findings enable us to develop a better understanding of the care and support persons with a rare disorder and their family members require.
These results pave the way for future research that looks to improve the healthcare experience of those with rare disorders and their caretakers and shed light on the importance of empowering the rare disease population through peer support, participation, education and increased health literacy. Future reports in this field are necessary to develop strategies and interventions that improve health literacy and enhance health outcomes and the quality of life for individuals with rare disorders.
All data generated or analysed during this review are included in this published article (and its additional files).
EURORDIS. What is a rare disease? [Internet]. EURORDIS. 2022 [cited 2023 Jun 2]. https://www.eurordis.org/information-support/what-is-a-rare-disease/
Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, et al. How many rare diseases are there? Nat Rev Drug Discov. 2020;19:77–8.
Article CAS PubMed PubMed Central Google Scholar
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73.
Article PubMed Google Scholar
Rare diseases [Internet]. European Commission. [cited 2023 Jun 6]. https://health.ec.europa.eu/non-communicable-diseases/expert-group-public-health/rare-diseases_en
The Ministry of Health and Care Services. Nasjonal strategi for sjeldne diagnoser [Internet]. 2021 Aug. https://www.regjeringen.no/no/dokumenter/nasjonal-strategi-for-sjeldne-diagnoser/id2867121/
Stanarević Katavić S. Health information behaviour of rare disease patients: seeking, finding and sharing health information. Health Info Libr J. 2019;36:341–56.
Zhu Q, Nguyễn Ð-T, Sheils T, Alyea G, Sid E, Xu Y, et al. Scientific evidence based rare disease research discovery with research funding data in knowledge graph. Orphanet J Rare Dis. 2021;16:483.
Article PubMed PubMed Central Google Scholar
Stoller JK. The challenge of Rare diseases. Chest. 2018;153:1309–14.
von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5:758–73.
Kesselheim AS, McGraw S, Thompson L, O’Keefe K, Gagne JJ. Development and use of new therapeutics for rare diseases: views from patients, caregivers, and advocates. Patient. 2015;8:75–84.
Kickbusch I, Pelikan J, Apfel F, Tsouros AD. Health literacy. The solid facts [Internet]. WHO Regional Office for Europe, Copenhagen; 2013. https://apps.who.int/iris/handle/10665/326432
Sør-Øst H. Regional utviklingsplan 2040 [Internet]. 2022 [cited 2023 May 25]. https://helse-sorost.no/regional-utviklingsplan-2040
Omsorgsdepartementet H-. og. Strategi for å øke helsekompetansen i befolkningen 2019–2023. 2019 [cited 2023 May 25]; https://www.regjeringen.no/no/dokumenter/strategi-for-a-oke-helsekompetansen-i-befolkningen-2019-2023/id2644707/
Kickbusch I, Maag D. Health Literacy [Internet]. International encyclopedia of public health. Elsevier; 2008. pp. 204–11. https://doi.org/10.1016/b978-012373960-5.00584-0
Sørensen K, Van den Broucke S, Fullam J, Doyle G, Pelikan J, Slonska Z et al. Health literacy and public health: a systematic review and integration of definitions and models. BMC Public Health [Internet]. 2012;12. https://doi.org/10.1186/1471-2458-12-80
Bogart KR, Irvin VL. Health-related quality of life among adults with diverse rare disorders. Orphanet J Rare Dis. 2017;12:177.
Arksey H, O’Malley L. Scoping studies: towards a methodological framework. Int J Soc Res Methodol. 2005;8:19–32.
Article Google Scholar
Levac D, Colquhoun H, O’Brien KK. Scoping studies: advancing the methodology. Implement Sci. 2010;5:69.
Daudt HML, van Mossel C, Scott SJ. Enhancing the scoping study methodology: a large, inter-professional team’s experience with Arksey and O’Malley’s framework. BMC Med Res Methodol. 2013;13:48.
Tricco AC, Lillie E, Zarin W, O’Brien KK, Colquhoun H, Levac D, et al. PRISMA Extension for scoping reviews (PRISMA-ScR): Checklist and Explanation. Ann Intern Med. 2018;169:467–73.
Bhatt N, Boggio L, Simpson ML. Using an educational intervention to assess and improve disease-specific knowledge and health literacy and numeracy in adolescents and young adults with haemophilia A and B. Haemophilia. 2021;27:229–36.
Article CAS PubMed Google Scholar
Bogart KR, Frandrup E, Locke T, Thompson H, Weber N, Yates J et al. Rare place where I feel normal: Perceptions of a social support conference among parents of and people with Moebius syndrome. Res Dev Disabil. 2017;64:143–51.
Chaudhry SR, Keaton M, Nasr SZ. Evaluation of a cystic fibrosis transition program from pediatric to adult care. Pediatr Pulmonol. 2013;48:658–65.
Dicianno BE, Lovelace J, Peele P, Fassinger C, Houck P, Bursic A, et al. Effectiveness of a Wellness Program for individuals with Spina Bifida and spinal cord Injury within an Integrated Delivery System. Arch Phys Med Rehabil. 2016;97:1969–78.
le Doré S, Grinda N, Ferré E, Roussel-Robert V, Frotscher B, Chamouni P, et al. The hemarthrosis-simulating knee model: a useful tool for individualized education in patients with hemophilia (GEFACET study). J Blood Med. 2021;12:133–8.
Ringqvist K, Borg K, Möller MC. Tolerability and psychological effects of a multimodal day-care rehabilitation program for persons with Huntington’s disease. J Rehabil Med. 2021;53:jrm00143.
van Balen EC, Krawczyk M, Gue D, Jackson S, Gouw SC, van der Bom JG, et al. Patient-centred care in haemophilia: patient perspectives on visualization and participation in decision-making. Haemophilia. 2019;25:938–45.
Chaleat-Valayer E, Amélie Z, Marie-Hélène B, Perretant I, Sandrine T. Therapeutic education program for patients with hypermobile Ehlers-Danlos syndrome: feasibility and satisfaction of the participants. Education thérapeutique Du patient -. Therapeutic Patient Educ. 2019;11:10202.
Hoefnagels JW, Fischer K, Bos RAT, Driessens MHE, Meijer SLA, Schutgens REG, et al. A feasibility study on two tailored interventions to improve adherence in adults with haemophilia. Pilot Feasibility Stud. 2020;6:189.
O’Mahar K, Holmbeck GN, Jandasek B, Zukerman J. A camp-based intervention targeting independence among individuals with spina bifida. J Pediatr Psychol. 2010;35:848–56.
Raphaelis S, Mayer H, Ott S, Hornung R, Senn B. Effects of Written Information and Counseling on illness-related uncertainty in Women with Vulvar Neoplasia. Oncol Nurs Forum. 2018;45:748–60.
PubMed Google Scholar
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, et al. Beyond the disease itself: a cross-cutting educational initiative for patients and families with rare diseases. J Genet Couns. 2021;30:693–700.
Stubberud J, Langenbahn D, Levine B, Stanghelle J, Schanke A-K. Emotional health and coping in spina bifida after goal management training: a randomized controlled trial. Rehabil Psychol. 2015;60:1–16.
Delisle VC, Gumuchian ST, Pelaez S, Malcarne VL, El-Baalbaki G, Körner A, et al. Reasons for non-participation in scleroderma support groups. Clin Exp Rheumatol. 2016;34(Suppl 100):56–62.
Depping MK, Uhlenbusch N, Härter M, Schramm C, Löwe B. Efficacy of a brief, peer-delivered self-management intervention for patients with Rare Chronic diseases: a Randomized Clinical Trial. JAMA Psychiatry. 2021;78:607–15.
Mulders G, de Wee EM, Vahedi Nikbakht-Van, de Sande MCVM, Kruip MJHA, Elfrink EJ, Leebeek FWG. E-learning improves knowledge and practical skills in haemophilia patients on home treatment: a randomized controlled trial. Haemophilia. 2012;18:693–8.
Smolich L, Charen K, Sherman SL. Health knowledge of women with a fragile X premutation: improving understanding with targeted educational material. J Genet Couns. 2020;29:983–91.
Jackson AD, Kirwan L, Gibney S, Jeleniewska P, Fletcher G, Doyle G. Associations between health literacy and patient outcomes in adolescents and young adults with cystic fibrosis. Eur J Public Health. 2020;30:112–8.
Merker VL, McDannold S, Riklin E, Talaei-Khoei M, Sheridan MR, Jordan JT, et al. Health literacy assessment in adults with neurofibromatosis: electronic and short-form measurement using FCCHL and Health LiTT. J Neurooncol. 2018;136:335–42.
Riklin E, Talaei-Khoei M, Merker VL, Sheridan MR, Jordan JT, Plotkin SR, et al. First report of factors associated with satisfaction in patients with neurofibromatosis. Am J Med Genet A. 2017;173:671–7.
LaDonna KA, Ghavanini AA, Venance SL. Truths and misinformation: a qualitative exploration of myotonic dystrophy. Can J Neurol Sci. 2015;42:187–94.
Parvizi MM, Lankarani KB, Handjani F, Ghahramani S, Parvizi Z, Rousta S. Health literacy in patients with epidermolysis bullosa in Iran. J Educ Health Promot. 2017;6:105.
Laberge L, Prévost C, Perron M, Mathieu J, Auclair J, Gaudreault M, et al. Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1. Public Health Genomics. 2010;13:424–30.
Rosnau K, Hashmi SS, Northrup H, Slopis J, Noblin S, Ashfaq M. Knowledge and self-esteem of individuals with neurofibromatosis type 1 (NF1). J Genet Couns. 2017;26:620–7.
Ioannou L, Massie J, Collins V, McClaren B, Delatycki MB. Population-based genetic screening for cystic fibrosis: attitudes and outcomes. Public Health Genomics. 2010;13:449–56.
Lewis KL, John B, Condren M, Carter SM. Evaluation of medication-related self-care skills in patients with cystic fibrosis. J Pediatr Pharmacol Ther. 2016;21:502–11.
PubMed PubMed Central Google Scholar
Lindvall K, Colstrup L, Loogna K, Wollter I, Grönhaug S. Knowledge of disease and adherence in adult patients with haemophilia. Haemophilia. 2010;16:592–6.
Lonabaugh KP, O’Neal KS, McIntosh H, Condren M. Cystic fibrosis-related education: are we meeting patient and caregiver expectations? Patient Educ Couns. 2018;101:1865–70.
Mälstam E, Bensing S, Asaba E. Everyday managing and living with autoimmune Addison’s disease: exploring experiences using photovoice methods. Scand J Occup Ther. 2018;25:358–70.
Naik H, Shenbagam S, Go AM, Balwani M. Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: a qualitative study. Mol Genet Metab. 2019;128:314–9.
Takeuchi T, Muraoka K, Yamada M, Nishio Y, Hozumi I. Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease. Springerplus. 2016;5:1713.
De la Corte-Rodriguez H, Rodriguez-Merchan EC, Alvarez-Roman T, Martin-Salces M, Garcia-Barcenilla S, Jimenez-Yuste V. Health education and empowerment in adult patients with haemophilia. Expert Rev Hematol. 2019;12:989–95.
Braisch U, Martinez-Horta S, MacDonald M, Orth M. Important but not enough - information about HD related topics and peer and professional support for young adults from HD families. J Huntingtons Dis. 2016;5:379–87.
Bryson B, Bogart K, Atwood M, Fraser K, Locke T, Pugh K, et al. Navigating the unknown: a content analysis of the unique challenges faced by adults with rare diseases. J Health Psychol. 2021;26:623–35.
Coathup V, Teare HJA, Minari J, Yoshizawa G, Kaye J, Takahashi MP, et al. Using digital technologies to engage with medical research: views of myotonic dystrophy patients in Japan. BMC Med Ethics. 2016;17:51.
Etchegary H. Healthcare experiences of families affected by Huntington disease: need for improved care. Chronic Illn. 2011;7:225–38.
Mohan R, Radhakrishnan N, Varadarajan M, Anand S. Assessing the current knowledge, attitude and behaviour of adolescents and young adults living with haemophilia. Haemophilia. 2021;27:e180–6.
Garrino L, Picco E, Finiguerra I, Rossi D, Simone P, Roccatello D. Living with and treating rare diseases: experiences of patients and professional health care providers. Qual Health Res. 2015;25:636–51.
Mooney J, Poland F, Spalding N, Scott DGI. In One Ear and Out the Other–Its a Lot to Take in’: A Qualitative Study Exploring the Informational Needs of Patients with ANCA-Associated Vasculitis. Musculoskeletal [Internet]. 2013; https://onlinelibrary.wiley.com/doi/abs/ https://doi.org/10.1002/msc.1030
David V, Feldman D, Danner-Boucher I, Rhun AL, Guyomarch B, Ravilly S, et al. Identifying the educational needs of lung transplant recipients with cystic fibrosis. Prog Transpl. 2015;25:18–25.
Gumuchian ST, Peláez S, Delisle VC, Carrier M-E, Jewett LR, El-Baalbaki G, et al. Understanding coping strategies among people living with scleroderma: a focus group study. Disabil Rehabil. 2018;40:3012–21.
Arya S, Wilton P, Page D, Boma-Fischer L, Floros G, Winikoff R, et al. They don’t really take my bleeds seriously: barriers to care for women with inherited bleeding disorders. J Thromb Haemost. 2021;19:1506–14.
Kurtz NS, Cote C, Heatwole C, Gagnon C, Youssof S. Patient-reported disease burden in oculopharyngeal muscular dystrophy. Muscle Nerve. 2019;60:724–31.
Pakhale S, Baron J, Armstrong M, Tasca G, Gaudet E, Aaron SD, et al. Lost in translation? How adults living with cystic fibrosis understand treatment recommendations from their healthcare providers, and the impact on adherence to therapy. Patient Educ Couns. 2016;99:1319–24.
Shepherd LM, Tahrani AA, Inman C, Arlt W, Carrick-Sen DM. Exploration of knowledge and understanding in patients with primary adrenal insufficiency: a mixed methods study. BMC Endocr Disord. 2017;17:47.
Arran N, Craufurd D, Simpson J. Illness perceptions, coping styles and psychological distress in adults with Huntington’s disease. Psychol Health Med. 2014;19:169–79.
Dellon EP, Helms SW, Hailey CE, Shay R, Carney SD, Schmidt HJ, et al. Exploring knowledge and perceptions of palliative care to inform integration of palliative care education into cystic fibrosis care. Pediatr Pulmonol. 2018;53:1218–24.
Shoshan L, Ben-Zvi D, Meyer S, Katz-Leurer M. Sexuality in relation to independence in daily functions among young people with spina bifida living in Israel. Rehabil Nurs. 2012;37:11–7. quiz 17–8.
Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, et al. Men with an FMR1 premutation and their health education needs. J Genet Couns. 2021;30:1156–67.
Sylvain C, Lamothe L, Berthiaume Y, Rabasa-Lhoret R. How patients’ representations of cystic fibrosis-related diabetes inform their health behaviours. Psychol Health. 2016;31:1129–44.
Arnold E, Lane S, Webert KE, Chan A, Walker I, Tufts J, et al. What should men living with haemophilia need to know? The perspectives of Canadian men with haemophilia. Haemophilia. 2014;20:219–25.
Torres-Ortuño A, Cuesta-Barriuso R, Nieto-Munuera J, Galindo-Piñana P, López-Pina J-A. The behaviour and perception of illness: modulating variables of adherence in patients with haemophilia. Vox Sang [Internet]. 2018; https://doi.org/10.1111/vox.12669
Keyte R, Egan H, Nash EF, Regan A, Jackson C, Mantzios M. An exploration into experiences and attitudes regarding risky health behaviours in an adult cystic fibrosis population. Psychol Health Med. 2020;25:1013–9.
Carpenter DM, DeVellis RF, Hogan SL, Fisher EB, DeVellis BM, Jordan JM. Use and perceived credibility of medication information sources for patients with a rare illness: differences by gender. J Health Commun. 2011;16:629–42.
Dwyer AA, Quinton R, Morin D, Pitteloud N. Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support. Orphanet J Rare Dis. 2014;9:83.
Litzkendorf S, Frank M, Babac A, Rosenfeldt D, Schauer F, Hartz T, et al. Use and importance of different information sources among patients with rare diseases and their relatives over time: a qualitative study. BMC Public Health. 2020;20:860.
Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet J Rare Dis. 2016;11:30.
Lindsay S, Fellin M, Cruickshank H, McPherson A, Maxwell J. Youth and parents’ experiences of a new inter-agency transition model for spina bifida compared to youth who did not take part in the model. Disabil Health J. 2016;9:705–12.
Skirton H, Williams JK, Jackson Barnette J, Paulsen JS. Huntington disease: families’ experiences of healthcare services. J Adv Nurs. 2010;66:500–10.
Domaradzki J. Family caregivers’ experiences with healthcare services–a case of Huntington’s disease. Psychiatr Pol. 2016;50:375–91.
Katavic SS, Tanackovic SF, Badurina B. Illness perception and information behaviour of patients with rare chronic diseases. Inflamm Res [Internet]. 2016 [cited 2023 Jun 14];21. https://doi.org/10.1111/hir.12261
Socha Hernandez AV, Deeks LS, Shield AJ. Understanding medication safety and Charcot-Marie-tooth disease: a patient perspective. Int J Clin Pharm. 2020;42:1507–14.
Akanuwe JNA, Laparidou D, Curtis F, Jackson J, Hodgson TL, Siriwardena AN. Exploring the experiences of having Guillain-Barré syndrome: a qualitative interview study. Health Expect. 2020;23:1338–49.
Foley G, Timonen V, Hardiman O. Understanding psycho-social processes underpinning engagement with services in motor neurone disease: a qualitative study. Palliat Med. 2014;28:318–25.
Borghi L, Moreschi C, Toscano A, Comber P, Vegni E, The PKU. ME study: a qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy. Mol Genet Metabolism Rep. 2020;23:100585.
CAS Google Scholar
Kazmerski TM, Gmelin T, Slocum B, Borrero S, Miller E. Attitudes and decision making related to pregnancy among Young women with cystic fibrosis. Matern Child Health J. 2017;21:818–24.
Flewelling KD, Sellers DE, Sawicki GS, Robinson WM, Dill EJ. Social support is associated with fewer reported symptoms and decreased treatment burden in adults with cystic fibrosis. J Cyst Fibros. 2019;18:572–6.
Kirk S, Milnes L. An exploration of how young people and parents use online support in the context of living with cystic fibrosis. Health Expect. 2016;19:309–21.
Salvatore V, Gilstrap A, Williams KR, Thorat S, Stevenson M, Gwosdow AR, et al. Evaluating the impact of peer support and connection on the quality of life of patients with familial chylomicronemia syndrome. Expert Opin Orphan Drugs. 2018;6:497–505.
Article CAS Google Scholar
López-Bastida J, Oliva-Moreno J, Linertová R, Serrano-Aguilar P. Social/economic costs and health-related quality of life in patients with rare diseases in Europe. Eur J Health Economics: HEPAC: Health Econ Prev care. 2016;17(Suppl 1):1–5.
Sørensen K, Van den Broucke S, Pelikan JM, Fullam J, Doyle G, Slonska Z et al. Measuring health literacy in populations: illuminating the design and development process of the European Health Literacy Survey Questionnaire (HLS-EU-Q). BMC Public Health [Internet]. 2013;13. https://doi.org/10.1186/1471-2458-13-948
Berkman ND, Sheridan SL, Donahue KE, Halpern DJ, Crotty K. Low health literacy and health outcomes: an updated systematic review. Ann Intern Med. 2011;155:97–107.
Geboers B, Reijneveld SA, Jansen CJM, de Winter AF. Health Literacy Is Associated With Health Behaviors and Social factors among older adults: results from the LifeLines Cohort Study. J Health Commun. 2016;21:45–53.
Mackey LM, Doody C, Werner EL, Fullen B. Self-management skills in Chronic Disease Management: what role does health literacy have? Med Decis Mak. 2016;36:741–59.
Paasche-Orlow MK, Wolf MS. The causal pathways linking health literacy to health outcomes. Am J Health Behav. 2007;31:19–26.
de Vrueh R, de Baekelandt Erf JMH. Background paper 6.19. Rare diseases. Geneva: World Health Organization; 2013.
Google Scholar
Uhlenbusch N, Löwe B, Härter M, Schramm C, Weiler-Normann C, Depping MK. Depression and anxiety in patients with different rare chronic diseases: a cross-sectional study. PLoS ONE. 2019;14:e0211343.
Download references
The authors want to thank leaders and colleagues. A special thank goes to librarian Hilde Iren Flaatten who has conducted systematic searches after literature and Anne Siri Albrigtsen for important contributions to this review. Several of the authors are members of Euro-NMD.
This work received funding from Norwegian National Advisory Unit on Rare Disorders. In addition the work was performed as part of regular activities at Frambu Resource Centre for Rare Disorders and Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital.
Authors and affiliations.
Frambu Resource Center for Rare Disorders, Sandbakkveien 18, Siggerud, 1404, Norway
Una Stenberg & Lydia Westfal
Norwegian National Advisory Unit on Learning and Mastery in Health, Oslo University Hospital, Postboks 4959 Nydalen, Oslo, 0424, Norway
Una Stenberg & Karl Fredrik Westermann
National Neuromuscular Centre Norway, University Hospital of North-Norway, Hansine Hansens vei 37, Tromsø, 9019, Norway
Andreas Dybesland Rosenberger
Section for Rare Neuromuscular Disorders and Unit for Congenital and Hereditary Neuromuscular Disorders (EMAN), Department of Neurology, Oslo University Hospital, Postboks 4950 Nydalen, Oslo, 0424, Norway
Kristin Ørstavik
Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Solnavägen 1, Solna, 171 77, Sweden
Maria Flink
Oslo Metropolitan University, Postbox 4, St. Olavs place, Oslo, N-0130, Norway
Heidi Holmen
National Centre for Rare Epilepsy-Related Disorders, Department of Rare Disorders, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Postboks, 4950 Nydalen, 0424, Oslo, Norway
Silje Systad
TRS Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital, Bjørnemyrveien 11, 1453, Bjørnemyr, Norway
You can also search for this author in PubMed Google Scholar
All the authors (US, GV, SS, KØ, KFW, HH, ADR, MF) except LW have contributed in the conception, design and analysis of data and interpretation of data. US has led all the phases of the review, and LW has contributed in the analysis and interpretation of data, and in writing the manuscript. All authors have read and approved the final manuscript.
Correspondence to Una Stenberg .
Ethics approval and consent to participate.
Not applicable.
Competing interests.
The authors declare that they have no competing interests.
Publisher’s note.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Below is the link to the electronic supplementary material.
Supplementary material 2, supplementary material 3, supplementary material 4, supplementary material 5, supplementary material 6, supplementary material 7, supplementary material 8, supplementary material 9, rights and permissions.
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ . The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/ ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Reprints and permissions
Cite this article.
Stenberg, U., Westfal, L., Dybesland Rosenberger, A. et al. A scoping review of health literacy in rare disorders: key issues and research directions. Orphanet J Rare Dis 19 , 328 (2024). https://doi.org/10.1186/s13023-024-03332-5
Download citation
Received : 25 October 2023
Accepted : 21 August 2024
Published : 06 September 2024
DOI : https://doi.org/10.1186/s13023-024-03332-5
Anyone you share the following link with will be able to read this content:
Sorry, a shareable link is not currently available for this article.
Provided by the Springer Nature SharedIt content-sharing initiative
ISSN: 1750-1172
World Journal of Surgical Oncology volume 22 , Article number: 246 ( 2024 ) Cite this article
Metrics details
Intraosseous myofibroma of the jaw is a rare neoplasm of mesenchymal origin with limited comprehensive understanding. It typically affects patients in the first two decades of life with a male predilection.
This study presents a rare case of myofibroma mimicking an odontogenic lesion in a 2-year-old boy. The patient presented with an incidental finding of a painless swelling of the right mandibular ramus of unknown etiology. Imaging analysis revealed a solid, expansile lesion adjacent to the germinal zone of the right mandibular first molar. Histopathologic analysis and immunohistochemistry after incisional biopsy suggested a possible central odontogenic fibroma, and the patient underwent total enucleation, leading to the final diagnosis of intraosseous myofibroma. Follow-up examinations showed no evidence of recurrence.
This report contributes to the understanding of myofibroma in pediatric patients and underscores the critical role of meticulous histopathologic examination for effective surgical planning and optimal patient outcomes.
Myofibroma is a rare tumor with a predilection for the head and neck region. Its intraosseous variant stands out as a rare spindle cell tumor involving the jaws, with only a few well-described case series documented in the literature [ 1 ]. Typically, intraosseous myofibroma affects patients in the first two decades of life and is more common in males [ 1 , 2 , 3 , 4 ]. Clinically, these lesions generally present as an asymptomatic pink to red and firm mass in the oral region. Radiographically, unilocular and well-circumscribed osteolysis with potential tooth displacement and/or bone expansion may be seen [ 1 , 3 ].
Histologically, myofibroma is characterized by a polylobulated spindle cell proliferation arranged in a biphasic pattern. The tumor cells stain positive for alpha-smooth muscle actin (α-SMA) and are usually negative for myogenin, desmin, CD34, S-100 protein, and beta-catenin [ 5 ]. This study describes a case of a mandibular intraosseous myofibroma in a 2-year-old boy mimicking an odontogenic tumor and discusses the differential diagnoses and treatment considerations.
This report follows the CARE [ 6 ] guideline. A 2-year-old boy presented with his parents for a routine pediatric examination, during which a previously unnoticed swelling of the right cheek was noted. The patient had no symptoms, and his medical and family history were unremarkable. Ultrasonography and subsequent magnetic resonance imaging (MRI) were performed, and the patient was referred to our tertiary center for further evaluation.
The patient presented with a round, firm swelling in the region of the right mandibular ramus without associated pain, dysfunction, paresthesia, or palsy (Fig. 1 A). The previous MRI showed a well-defined intraosseous contrast-enhancing mass along the right mandibular ramus without unequivocal infiltrative growth or signs of an aggressive periosteal reaction, measuring 3.2 × 2.9 × 2.5 cm (Fig. 1 B ) . No additional manifestations were found on clinical and radiological examination, excluding myofibromatosis. A computed tomography (CT) was recommended to delineate the extent of the lesion before any intervention. The lesion was found at the full height of the coronoid process, extending medially into the pterygomaxillary and laterally into the masticator space (Fig. 1 C).
A , Clinical frontal view at consultation with volume plus on the right side. B , MRI showing a well-delineated intraosseous contrast-enhancing mass along the right mandibular ramus and coronoid process without signs of infiltrative growth or neck involvement. C , CT highlighting the lesion at the full height of the coronoid process, extending medially into the pterygomaxillary and laterally into the masticator space
After interdisciplinary board discussion, the differential diagnosis included odontogenic tumors, unicystic ameloblastoma, and central giant cell granuloma. Intraoral incisional biopsy under general anesthesia and complete laboratory evaluation were recommended. Laboratory tests were normal. Histopathologic assessment revealed a monomorphic and well-vascularized lesion with a myxoid background. Immunohistochemical studies showed a low proliferation index (Ki-67 positive in 5–7% of the lesional cells). The stainings against pan-CK (CK22), CD31, PU.1, CD45, ERG, beta-catenin, desmin, and MyoD1 yielded negative results. Weak positivity for α-SMA and nestin was noted. The overall constellation was interpreted as being most likely in keeping with a benign mesenchymal odontogenic tumor, e.g., odontogenic fibroma or fibromyxoma, excluding the former non-odontogenic differential diagnoses (Fig. 2 A-B).
Incisional biopsy (hematoxylin/eosin stain and immunohistochemistry). A , monomorphic spindle cell proliferation against a myxoid background and a well-vascularized stroma ( 10x ). B , weakly positive reaction for α -SMA ( 10x )
Considering the age and a favorable prognosis, an intraoral enucleation under general anesthesia was planned. Radiology data was segmented to create an anatomical 3D-printed model (Fig. 3 A-B ). Surgery was executed by a senior experienced maxillofacial surgeon without complications, with preservation of the inferior alveolar nerve and no need for bony reconstruction (Fig. 3 C).
Anatomical 3D-printed model and intra-operative picture. A-B , 3D-printed mandible model with a segmented lesion in green. C , well-demarcated lesion after retromolar intraoral access
Histopathological evaluation after marginal excision revealed a monomorphic and partly fascicular spindle cell proliferation with a partly myxoid background (Fig. 4 A-C). The complete specimen allowed us to assess better the tumor’s architecture, which showed a lobulated and biphasic morphology with alternating hypo- and hypercellular areas and a densely vascularized background. Immunohistochemistry against α-SMA turned out consistently and strongly positive, whereas the cells remained negative in stainings against calponin, desmin, MyoD1, myogenin, CK22, CK8/18, and S100. The Ki-67 index stained 5–10% of tumor cells. Morphology, immunophenotype, and site were interpreted as diagnostic for an intraosseous myofibroma (Fig. 5 ).
Resection specimen (hematoxylin & eosin staining). A , lobulated and biphasic spindle cell proliferation separated by fibrous septae with increased capillary density ( 1.6x ). B-C , the background appears slightly myxoid, the cells are monomorphic and lack higher-grade cytologic atypia (5.2x , 10x )
Resection specimen (immunohistochemistry). A , the proliferation marker Ki-67 stains 5–10% of tumor cells ( 10x ). B , the reaction against α-SMA is strongly and consistently positive ( 5.2x )
The patient has been under follow-up for 12 months, demonstrating a normal mouth opening without complaints, palsy, or paresthesia (Fig. 6 A ) . A post-operative MRI conducted six months after surgery revealed no evidence of local recurrence or tumor persistence, a regular appearance of the joint, normal adjacent soft tissues, and the expected amount of bone remodeling (Fig. 6 B ) . These findings underscore the effectiveness of the treatment and point to a favorable prognosis for the patient.
Post-operative follow-up at six months. A , clinical aspect with resolution of facial asymmetry at cheek level. B , MRI showing no recurrence or tumor persistence but signs of bone remodeling
The parents and the surgeon expressed satisfaction with the treatment, considering it well-tolerated by the patient and with aesthetic and functional maintenance. Since the successful resolution was achieved through enucleation only, diligent follow-ups remain essential.
Myofibroma is a rare benign spindle cell tumor that can occur in both soft tissue and bone in children [ 2 ]. Solitary and multicentric forms can be distinguished, although some authors consider solitary myofibroma a variant of myofibromatosis. In contrast, others believe it is a separate lesion, with the most recent classification considering it under the category of myopericytomas / perivascular tumors [ 1 ]. Maxillofacial lesions are rare, corresponding to 2% of all cases, and usually affect the soft tissues [ 3 ]. Intraosseous myofibroma of the jaw is considered rare to ultra-rare and has a preference for the mandible [ 3 , 7 ]. The age range of patients with myofibroma varies between studies from birth to older age. However, the intraosseous variant of myofibroma is characteristically seen in the first two decades of life, especially before the age of two. Therefore, an intraosseous lesion in this patient population should include intraosseous myofibroma in the differential diagnosis [ 1 , 2 , 3 ]. Although this also varies widely between studies, males are more likely to be affected, ranging from 1.2:1 to 2.3:1 1,2,3,4 . The clinical aspects of the present case are well in line with those of previously reported cases: painless swelling without any other symptoms. Myofibromas may also present with intraoral growth, ulceration, as well as a rapid size increase, and mimic a malignant tumor [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ].
Radiographically, intraosseous myofibroma are well-defined, unilocular, and radiolucent lesions that may or may not be associated with an unerupted tooth [ 1 , 3 , 4 ]. They can exhibit a multilocular aspect, tooth resorption or displacement, cortical bone expansion, or cortical perforation [ 1 , 4 ]. The present case was classic in presentation but was already large and close to the condyle with some bone expansion and cortical perforation. Since the patient’s parents did not notice the lesion before the pediatricians’ inspection, estimation of the growth dynamics was not possible.
Definitive diagnosis is usually difficult due to the rarity of the lesion, the equivocal clinical, radiographic, and histological findings as well as the lack of specific biomarkers. Myofibroma is therefore prone to misdiagnosis with the consequent risk of overtreatment [ 1 , 4 , 6 , 7 ]. In the case presented here, the initial biopsy showed a non-specific spindle cell proliferation with only weak α-SMA staining, pointing to the differential diagnoses of odontogenic fibroma or fibromyxoma. Only the resection specimen showed the typical polylobulated biphasic architecture and stronger staining for α-SMA, allowing the correct diagnosis of myofibroma. Incisional biopsies must always be interpreted cautiously and can sometimes be misleading, particularly if dealing with lesions for which specific biomarkers are not available [ 1 , 9 ]. In the literature, even cases initially interpreted as leiomyosarcomas have been reported, resulting in overtreatment of the patient with en bloc resection [ 10 ].
Regarding the differential diagnosis before incisional biopsy, odontogenic lesions such as odontogenic keratocysts (OKCs) and unicystic ameloblastoma were considered. OKCs typically originate in tooth-bearing regions, with a high prevalence in the posterior mandible, particularly among males, as in the present case [ 11 ]. However, several distinct features differentiate OKCs from myofibromas: the age range of involvement (8–82 years, with a peak in the third decade of life), the mesiodistal growth pattern rarely exhibiting cortical expansion, and the absence of a cystic lining covered by the pathognomonic basal layer with hyperchromatic cells in palisade [ 11 ].
Although unicystic ameloblastoma is considered in the differential diagnosis because of its location and radiographic similarities to solitary intraosseous myofibroma, it is most commonly seen in the third to sixth decades of life and is much less common than its multicystic counterpart [ 12 ]. In addition, our findings after an incisional biopsy, a well-vascularized solid lesion with monomorphic spindle cell proliferation on a myxoid background, suggested a mesenchymal tumor, thereby narrowing our differential hypotheses. In contrast, unicystic ameloblastomas typically present with an epithelial lining composed of loosely cohesive cells and a basal layer of columnar or cuboidal cells with hyperchromatic nuclei, reverse polarity, and basilar cytoplasmic vacuolization, resembling the stellate reticulum [ 12 ].
Beyond odontogenic lesions, other entities that pose a greater challenge in differentiating from myofibromas include desmoplastic fibromas [ 3 ]. This rare fibroblastic tumor is often considered as the intraosseous counterpart of desmoid fibromatosis [ 4 ]. Similar to our case, desmoplastic fibromas primarily affect young patients, typically manifesting as a painless swelling in the posterior mandible, though with more aggressive and destructive behavior [ 4 , 13 ]. Additionally, its occasional unilocular radiolucent appearance, combined with a similar histopathological spindle-cell fascicular architecture, can mimic myofibromas [ 4 ]. However, the absence of a hemangiopericytoma-like vascular pattern and less consistent α-SMA positivity in desmoplastic fibromas, as opposed to the pattern and strong α-SMA positivity in myofibromas, helps in distinguishing between the two lesions [ 14 , 15 ].
The rarity of well-documented cases with long-term follow-up and the limited experience with these intraosseous lesions, in general, make it difficult to predict these lesions’ behavior and the optimal treatment/follow-up. The typical characteristics of well-defined borders, benign nature, and low recurrence rates make conservative surgery with enucleation with/without curettage the treatment of choice [ 7 ]. In addition, wide excision and extraction of associated teeth are alternative approaches [ 1 ]. Instead of a specific protocol, it has been suggested to treat benign pediatric jaw tumors according to their biological behavior, with aggressive tumors requiring resection and nonaggressive tumors requiring enucleation [ 10 ].
A minimally invasive approach seems crucial when dealing with solitary myofibroma in pediatric patients to avoid lifelong sequelae. The short follow-up is a limitation of the present report. Nevertheless, we present a rare and well-documented case, including 3D planning, and discuss specific histologic features with differential diagnosis after rigorous investigation.
Like other rare pediatric mass lesions, intraosseous myofibroma presents a diagnostic challenge due to its non-specific histopathological features, particularly in biopsy material. In addition, there are no pathognomonic molecular markers. Early recognition and correct diagnosis are essential for effective management, as misdiagnosis may be associated with overtreatment and morbidity. This report describes a well-documented case of a rare disease for which diagnosis and treatment can be challenging. It highlights the importance of meticulous histopathological examination for well-planned surgery to ensure optimal outcomes and minimal morbidity.
No datasets were generated or analysed during the current study.
alpha-smooth muscle actin
magnetic resonance imaging
computed tomography
odontogenic keratocysts
Smith MH, et al. An update on myofibromas and myofibromatosis affecting the oral regions with report of 24 new cases. Oral Surg Oral Med Oral Pathol Oral Radiol. 2017;124(1):62–75. https://doi.org/10.1016/j.oooo.2017.03.051 .
Article PubMed Google Scholar
Mahajan P, Hicks J, Chintagumpala M, Venkatramani R. Myofibroma in Infancy and Childhood. J Pediatr Hematol Oncol. 2017;39(3):e136–39. https://doi.org/10.1097/MPH.0000000000000732 .
Article CAS PubMed Google Scholar
Lopes RN, et al. Head and neck solitary infantile myofibroma: clinicopathological and immunohistochemical features of a case series. Acta Histochem. 2015;117(4–5):431–6. https://doi.org/10.1016/j.acthis.2015.02.001 .
Allon I, et al. Central (intraosseous) myofibroma of the mandible: clinical, radiologic, and histopathologic features of a rare lesion. Oral surgery. Oral Med Oral Pathol Oral Radiol Endod. 2007;103(4):e45–53. https://doi.org/10.1016/j.tripleo.2006.08.026 .
Article Google Scholar
Aryanpour Z, et al. Mandibular myofibroma and severe Trismus: a Complex Case and Review of complications. Plast Reconstr Surg Glob Open. 2022;10(6):e4380. https://doi.org/10.1097/GOX.0000000000004380 .
Article PubMed PubMed Central Google Scholar
Gagnier JJ, et al. The CARE guidelines: Consensus-based clinical case reporting Guideline Development. Glob Adv Health Med. 2013;2(5):38–43. https://doi.org/10.7453/gahmj.2013.008 .
Dhupar A, et al. Solitary intra-osseous myofibroma of the Jaw: a Case Report and Review of Literature. Child (Basel). 2017;4(10):91. https://doi.org/10.3390/children4100091 .
Cunha JLS, et al. Aggressive Intraosseous Myofibroma of the Maxilla: report of a Rare Case and Literature Review. Head Neck Pathol. 2021;15(1):303–10. https://doi.org/10.1007/s12105-020-01162-y .
Montgomery E, Speight PM, Fisher C. Myofibromas presenting in the oral cavity: a series of 9 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2000;89(3):343–8. https://doi.org/10.1016/S1079-2104(00)70100-4 .
Abramowicz S, et al. Myofibromas of the Jaws in Children. J Oral Maxillofac Surg. 2012;70(8):1880–4. https://doi.org/10.1016/j.joms.2011.09.029 .
Boffano P, et al. The epidemiology and management of odontogenic keratocysts (OKCs): a European multicenter study. J Craniomaxillofac Surg. 2022;50(1):1–6. https://doi.org/10.1016/j.jcms.2021.09.022 .
Boffano P, et al. The epidemiology and management of ameloblastomas: a European multicenter study. J Craniomaxillofacial Surg. 2021;49(12):1107–12. https://doi.org/10.1016/j.jcms.2021.09.007 .
Segard T, Bertin H, Lepine C, Guyonvarc’h P. Desmoplastic fibroma of the jaw: a case report and review of the literature. J Stomatol Oral Maxillofac Surg. 2024;101805. https://doi.org/10.1016/j.jormas.2024.101805 .
Chattaraj M, et al. Solitary myofibroma of the Mandible in a six-Year Old-Child: diagnosis of a rare lesion. J Clin Diagn Res. 2017;11(4):ZD13–5. https://doi.org/10.7860/JCDR/2017/25506.9677 .
Pereira De Oliveira DHI, et al. Myofibroblastic lesions in the oral cavity: immunohistochemical and ultrastructural analysis. Oral Dis. 2019;25(1):174–81. https://doi.org/10.1111/odi.12972 .
Download references
Not applicable.
No funding was received to assist with the preparation of this manuscript.
Open access funding provided by University of Basel
Jose Wittor de Macedo and Benito K. Benitez contributed equally to this work.
Andreas A. Mueller and Florian M. Thieringer contributed equally to this work.
Oral and Craniomaxillofacial Surgery, University Hospital Basel, Spitalstrasse 21, Basel, 4031, Switzerland
José Wittor de Macêdo Santos, Benito K. Benitez, Daphne Schönegg, Andreas. A. Mueller & Florian M. Thieringer
Pediatric Maxillofacial Surgery, University Children’s Hospital Basel, Spitalstrasse 33, Basel, 4031, Switzerland
Benito K. Benitez & Andreas. A. Mueller
Bone Tumor Reference Center, Basel Research Centre for Child Health, Institute of Medical Genetics and Pathology, University Hospital Basel, Spitalstrasse 21, Basel, CH-4031, Switzerland
Daniel Baumhoer
Department of Otolaryngology, University of Florida, 1345 Center Drive, Box 100264, Gainesville, Florida, 32610, USA
Thomas Schrepfer
You can also search for this author in PubMed Google Scholar
JWMS and BKB reviewed the patient’s chart and wrote the original draft. BKB performed the initial and follow-up consultation. BKB, DS, and TS performed the surgery and reviewed the manuscript. DB reviewed the manuscript and conducted histopathological and immunohistochemical exams. AAM and FMT supervised and reviewed the manuscript. All authors participated in drafting or revising this manuscript. All authors read and approved the final manuscript.
Correspondence to Benito K. Benitez .
Ethical approval.
Not required. Informed consent was obtained from the patient’s parents for case description and photo material.
Consent to participate and publish was obtained, and parents provided informed consent to publish all images.
The authors declare no competing interests.
Publisher’s note.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ .
Reprints and permissions
Cite this article.
de Macêdo Santos, J.W., Benitez, B.K., Baumhoer, D. et al. Intraosseous myofibroma mimicking an odontogenic lesion: case report, literature review, and differential diagnosis. World J Surg Onc 22 , 246 (2024). https://doi.org/10.1186/s12957-024-03520-4
Download citation
Received : 04 July 2024
Accepted : 01 September 2024
Published : 12 September 2024
DOI : https://doi.org/10.1186/s12957-024-03520-4
Anyone you share the following link with will be able to read this content:
Sorry, a shareable link is not currently available for this article.
Provided by the Springer Nature SharedIt content-sharing initiative
ISSN: 1477-7819
BMC Cancer volume 24 , Article number: 1102 ( 2024 ) Cite this article
18 Accesses
Metrics details
According to GLOBOCAN 2020 Breast cancer is the most common cancer among women and the prevalence is increasing worldwide and in Ethiopia. This review assessed studies conducted in Ethiopia on the clinical features and epidemiology of breast cancer.
Data base search conducted PubMed, Google Scholar African Journals Online (AJOL), Cumulative Index of Nursing and Allied Health Literature (CINAHL) and Hinari without time restrictions. The search keywords included; prevalence and pattern, clinical presentation, histological and molecular subtypes, and management. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline to identify, search, extract articles, and report this systematic review. The protocol was registered in PROSPERO, ID: CRD42023403320.
Twenty studies were included in the review with 33,369 participants and 3 were community-based and 17 were hospital-based. In all except two reviewed studies, breast cancer is the most common cancer among women of Ethiopia. The most frequent presenting symptom was a breast lump/mass and commonly affected side was right breast. Most patients presented at a late stage and they were premenopausal age group. The commonest histology type is ductal carcinoma, that the most prevalent receptor was estrogen receptor positive, and the most common molecular subtype was Luminal A in pathology samples. Surgery is main stay of treatment and the most common surgical technique practiced in Ethiopia is modified radical mastectomy.
Breast cancer incidence is rising, and it accounts for the major cancer burden in the country. There is a need for additional awareness-raising and health education because delayed presentation are critical problems throughout Ethiopia. For planning and monitoring cancer patterns, comprehensive demographic and clinical data from a population or facility-based registry are needed in the regions. The available treatment options are still limited in Ethiopia it needs infrastructural development.
Peer Review reports
The World Health Organization (WHO) report shows that in 2020, 2.3 million women were diagnosed with breast cancer, making it the most common cancer with 685,000 deaths worldwide. It continues to cause more disability-adjusted life years (DALYs) in women worldwide than any other cancer. Deaths from breast cancer are high in African countries due to poor health infrastructure, poor vital records, delayed health-seeking behavior, and low community awareness [ 1 ].
Breast cancer incidence and mortality rates in the world have increased over the last three decades. Study done on Breast cancer incidence and mortality from 1990 to 2016. In 60 out of 102 countries, the incidence of breast cancer has more than doubled, while the death rate has doubled in 43 out of 102 countries [ 2 ]. By 2030, it is predicted that there will be 2.7 million new cases worldwide each year and 0.87 million deaths from breast cancer [ 3 ].
A country assessment showed that breast cancer is the most common cancer illness in Ethiopia, accounting for 16,133 (20.9%) of all cancer cases and 9,061 (17.5%) of all cancer-related deaths [ 4 ]. Approximately 80% of breast cancer cases in sub-Saharan Africa are detected at late stages (stage III or IV), compared to 15% in high-income countries [ 5 ].
Breast cancer arises from the epithelium lining the milk ducts, known as invasive ductal carcinoma. This is the most common subgroup (50–80%), followed by the group arising from the glandular tissue of the breast lobules [ 6 ]. Based on mRNA gene expression levels, breast cancer can be classified into molecular subgroups. The four main intrinsic subtypes of breast cancer (Luminal A, Luminal B, HER2-enriched, and basal-like). Regarding Hormone status of breast cancers ER-positive tumors account for almost 70% of all breast cancers in Western populations [ 7 , 8 ]. The TNM system for cancer staging refers to the classification of a tumor based on a list of factors, including the degree of disease affecting the main tumor (Tis to T4), regional lymph node status (N0 to N3), and distant metastases (M0 or M1) (0 to IV) [ 9 ].
When choosing a treatment plan, the type of breast cancer and its stage are often considered. Patients with breast cancer are often given several types of treatment. The current choices are radiation therapy, surgery, chemotherapy, hormonal therapy, biological therapy, and chemotherapy [ 10 ]. According to studies from underdeveloped countries, stage I and stage II have five-year survival rates of 90% and 65%, respectively, while stage III and stage IV have rates of only 33% and 6%, respectively [ 11 ].
Until April 2022, the Tikur Anbesa Specialized Hospital (TASH) was the only center in the country that offered radiotherapy. As of April 2022, Ethiopia has two additional functional radiation therapy centers: Jimma University Medical Center (JUMC) in the southwest of the country and Hiwot Fana Specialized Hospital at Haramaya University in the eastern part of the country.
Based on a preliminary search, we couldn’t find compressive evidence at the country level regarding breast cancer patients’ epidemiology and clinical profile. Therefore, a thorough examination of the existing evidence on breast cancer would aid in understanding breast cancer epidemiology and clinical profile in the country. This review provides evidence for the development of future strategies that are especially suited to the Ethiopian population.
This study aimed to generate country wide evidence on epidemiology and clinical characteristics of breast cancer in Ethiopia.
The PROSPERO international prospective register of systematic review database checked for already-done or ongoing systematic reviews with the same objective before the data collection process started. The protocol of this review is registered in ID: CRD42023403320. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline to identify, search, extract articles, and report this systematic review [ 12 ].
The electronic databases and search engines PubMed, Google Scholar African Journals Online, Cumulative Index of Nursing and Allied Health Literature and Hinari were searched until June 20, 2023. The MeSH terms and key words were as follows: breast cancer, breast neoplasm, prevalence, epidemiology, Sign, Symptom Presentation, histology, molecular subtype, and management of breast cancer. The MeSH keywords were combined using Boolean operators (AND/OR), and Ethiopia’s name was appended at the end. To enhance the number of articles included and lower the number of missing articles, hand searching was done on the citations and references listed in the eligible articles ( Tables 1 and 2 ).
Selection of study and extraction.
As shown in the PRISMA flowchart, all articles identified from the electronic database searches were imported into Zotero and Duplicates were removed. Further Exclusion of articles conducted using title and abstract screening. Articles with full text were assessed for eligibility and further full text exclusion done on those articles which do not have a clearly written result. FGD and BTT extracted data simultaneously and independently, and any disagreements were resolved after independent review by the TGD and YDS. Finally, we extracted relevant information from each literature using an Excel spreadsheet template to avoid missing important information when preparing the results of the review or for future cross-checking. The extracted data includes first author’s name, year of publication, study design, location, prevalence and pattern, Presenting Symptom, Stage at presentation, Histology findings, Molecular Features and Treatment.
PRISMA flowchart for article Search and Selection Process
The extracted data were further categorized into institution-based and community-based according to the setting in which the studies took place and further sorted according to the institution in which the studies were conducted. The methodological quality of the included studies was assessed using the Joanna Briggs Institute (JBI) Critical Appraisal Checklist [ 13 ].
A total of 352 articles were found from electronic data base searching on the search engines and databases. All of these search results exported to Zotero computer software, where 140 duplicate records were removed and 149 were removed after being screened based on title and abstract. Further 43 articles were removed based on an objective of the review. Finally, 20 eligible articles, which enrolled 33,369 participants, were included in the systematic review (Fig. 1 ).
Most of the studies were conducted in Tikur Anbesa specialized hospital (TASH)(6/20), which was only hospital with radiotherapy treatment in the country until April 2022. Articles based on the study setting: 3 (15%) articles were community-based, and 17 (85%) articles were hospital-based. Based on study design, 9 (45%) articles were cross-sectional, 10 (50%) retrospective chart reviews, and one retrospective cohort.
Five studies assessed the prevalence and pattern of breast cancer in the country. All hospital-based studies showed the prevalence of breast cancer compared to other cancers. Breast cancer accounts for 15.2–26% of all cancers [ 14 , 15 ] and from female cancer 29.3–37% [ 11 , 16 ].
A community-based study done using the Addis Ababa City Cancer Registry (AACCR) showed the incidence of breast cancer (2012–2013) to be 31.5% of all female cancers [ 17 ] and a study done during 2012–2015 from AACCR and six regions showed breast cancer constituted 33% of all cancers in women and 23% of all cancers [ 18 ].
According to a study done at Hawassa University Comprehensive Specialized Hospital (HUCSH) from 2013 to 2019, the number of women diagnosed with breast cancer in hospitals has increased from 69 (12.3%) In 2013, 106 (19%) in 2019 [ 19 ].
A study from Gondar University Comprehensive Specialized Hospital (GUCSH), showed breast cancer accounts for 76 (14.1%) of all cancers [ 15 ] and finding from TASH showed breast cancer accounts for 26% of female cancers [ 14 ].
A study conducted at St. Paul’s Hospital Millennium Medical College (SPHMMC), of all malignancies, breast cancer accounted for 587 (29.3%) in 2019, making it the second most common disease after cervical CA [ 16 ].
Fourteen studies reported Age at diagnosis. The median age ranges 38-55.8 years [ 19 , 20 ] and mean age ranges 42.1–47.5 years [ 16 , 21 ].
Premenopausal patients represent the majority of female breast cancer patients at the time of diagnosis, with the median age being between 40 and 46 years (14,15,17,19,23,2829). Breast lumps or masses were the most common presenting symptoms in all studies, followed by breast pain and ulceration [ 20 , 22 , 23 , 24 , 25 ]. A study conducted at the GUCSH, where 65 (79%) patients presented with breast mass and breast ulceration in 15 patients (18%) [ 26 ].
Similar findings from two university hospitals (Gondar and Felege Hiwot University Comprehensive Specialized Hospital) (GUCSH and FHCSH) revealed that breast lump or mass was the most common presentable symptom in 328 (88.4%), followed by painful wound in 161 (43.4%) [ 22 ].
A study at Dessie Referral Hospital (DRH) showed 117 (57.4%) patients presented with breast lumps, followed by breast pain in 70 (34.3%) [ 25 ]. A multicenter study in Addis Ababa showed that breast lumps were found in 344 (78.0%) patients, followed by pain in 53 (10.2%) patients [ 24 ].
Regarding lymph node involvement, the findings from GUCSH and FHCSH showed that (320, 86.3%) and DRH 30, (14.7%), had a lymph node involvement at presentation [ 22 , 25 ]. According to studies done at the GUCSH and TASH, breast CA commonly affects the right breast 48 (59%), and, 160 (38.4%) respectively ( 26 , 19 and 27 )and unlike others finding from HUCSH showed left breast in is commonly affected 302 (54%), and the upper outer quadrant was the most commonly involved according to the findings from TASH 154 (78.2%) ,40 (9.6%) [ 27 , 28 ].
Nine studies included stage at presentation. Eight studies showed most of the patients presented in late stages (stage III and stage IV), and the prevalence of advanced stages ranges from 57 to 71.2% in ( 22 , 19 , 29 , and 25 ). This was shown in a study conducted in GUCSH and FHCSH, in which 53 (14.3%) patients were diagnosed at stage IV and 211 (56.9%) patients were diagnosed at stage III [ 22 ]. According to HUCSH findings, 24 (12.2%) were diagnosed with stage IV disease, 113 (57.4%) with stage III disease, and 160 (30.4%) with early-stage disease [ 19 ].
Findings from DRH showed 82 (40.2%) and 53 (25.5%) were diagnosed with stage IV and stage III, and early stage presentation was 69 (33.8%) [ 27 ]. TASH stages at diagnosis: 74 (57%) were diagnosed at stages III and IV. Stage III: 63 (48.5%); Stage IV: 11 (8.5%) [ 29 ].
Unlike the previous papers, a finding from the TASH showed that the majority of patients 56(59%) of patients presented with early and late stages accounted for 40(41%) [ 30 ].
Nine studies included histologic findings and in all reviewed studies, ductal carcinoma is the most prevalent histology type. The prevalence of ductal carcinoma in studies done in SPHMMC, (GUCSH and FHCSH), GUCSH, and HUCSH studies was 479 (81.6%), 347 (93.5%), 61 (74%), and 156 (79.2), respectively [ 16 , 22 , 26 , 28 ]. Out of nine studies 5 studies were from TASH. Ductal carcinoma is the most common histology type in TASH, followed by lobular carcinoma, with a prevalence ranging from 55.3 to 83.7% [ 20 , 27 , 29 , 30 , 31 ].
Regarding the level of differentiation, studies conducted in TASH and HUCSH, showed that moderate differentiation carcinoma is the commonest type (177 (31.7%) and 91 (46.2%), followed by poor differentiation (155 (27.7%) and 72 (36.5%), respectively [ 28 , 31 ]. Unlike the previous study findings, those from northern Ethiopia (GUCSH and FHCSH) and GUCSH showed that poor differentiation was the most common among types 140 (45.6%) and 30 (37%), followed by moderate differentiation in patients 79 (40.7%) and 14 (17%), respectively [ 22 , 26 ].
Two studies from TASH looked at the prevalence of hormone receptors and molecular subtypes. Both papers showed that the most prevalent receptor was estrogen receptor positive, and the most common molecular subtype was Luminal A in pathology samples. In a study from TASH in 2018, the prevalence of estrogen receptor positivity was 74 (65%), progesterone receptor positivity was 49 (43%), and HER2 positivity was 26 (23%). Regarding molecular subtype, the prevalence of Luminal A (ER + and/or PR+, HER2-) was 45 (40%), Luminal B (ER + and/or PR+, HER2+) was 30 (26%), HER2-enriched (ER-, PR-, HER2+) was 11 (10%), and Triple Negative/Basal like (ER-, PR-, HER2-) was 26 (23%) [ 30 ]. In a similar study from the same institution (2017), 137 biopsies were found to be ER+ (65.5%), PR+ (58%), and HER2 positive (28%) in a study, and the prevalence of molecular subtypes was shown to be Luminal A (54%), Luminal B (22%), HER2-enriched (6%), and Triple 29 Negative/Basal-like (18%) [ 29 ].
Studies included in this review Reported modalities of treatment, including surgery, chemotherapy, radiotherapy, and hormonal therapy. Surgery remain the mainstay of management in many settings in Ethiopia, and the most prevalent surgical technique was modified radical mastectomy (MRM) [ 19 , 22 , 25 ].
Finding from GUCSH showed, surgery was done for all 82 patients of which 51 (62%) of patients underwent MRM, and 79 (96%) received chemotherapy. The commonest chemotherapy regimen is Adriamycin and Cyclophosphamide (AC). Hormonal treatment given to 60 (73%) and Tamoxifen 18 (22%) was the commonest type [ 26 ].
Surgery was performed in 357 (96.2%) patients by two university hospitals (GUCSH and FHCSH); chemotherapy was performed in 163 (43.9%); and hormone therapy was performed in 50 (13.5%) [ 22 ].
According to a study conducted at HUCSH, chemotherapy provided for all 559 (100%) patients and Doxorubicin, cyclophosphamide, and paclitaxel were the chemotherapy regiment was commonest. Hormonal therapy provided 168(30%) and Tamoxifen regiment was commonest hormonal therapy patients, and surgery (modified radical mastectomy) was done for 196 (35.1%) [ 19 ].
Chemotherapy was given for 275 (90.7) patients in TASH in 2019, with the most prevalent regimen being 5-fluorouracil, doxorubicin, and cyclophosphamide (FAC) in 66.9% of cases. Surgery was done for 257 (85%) , combination therapy (surgery, chemotherapy, and palliative care) delivered to 189 (55.8%) and Radiotherapy was provided for 107 (35%) [ 21 ].
A similar study from TASH on 2013 Surgery was done for 902 (87%), and the majority had a modified radical mastectomy of 880 (95%). The majority of patients 893 (83%) also received chemotherapy, mainly anthracycline-containing chemotherapy (FAC)782 (73%). Hormonal therapy provided for 864 (81%) [ 31 ].
According to a study conducted at ACSH, 121 (65.1%) patients had surgery and 33 (17.7%) had chemotherapy, while the rest had both surgery and chemotherapy [ 30 ]. In TASH(2017), 192 (74%) patients received surgical intervention, the commonest being mastectomy 126, (65.6%); radiotherapy was provided for 53 (20.5%); and chemotherapy was provided for 231 (89.2%) patients [ 29 ].
Breast cancer is the most common type of cancer in Ethiopia in most reviewed studies, where the prevalence ranges from 15.2 to 26% from all cancers [ 14 , 15 ] and from female cancer 29.3–37% [ 11 , 16 ]. The pattern of breast cancer is increasing in Ethiopia. A study from HUCSH showed the breast cancer rate in hospitals has increased from 69 (12.3%) in 2013 to 106 (19%) in 2019 [ 19 ] and Results from TASH showed changes in breast cancer between 1997 and 2012, with a prevalence in 2012 has increased by more than seven times compared 1997 [ 32 ].
finding from different studies support this review’s finding which shows incidence increased by 1.44% per year from 1990 to 2017 and as for regional changes in incidence, all regions of breast cancer had increased incidence except North America, and the Middle East and North Africa had the largest increase in overall incidence [ 33 ]. In a similar study conducted between 2000 and 2012, incidence rates of breast cancer increased in South Korea, China, and the United Kingdom while decreasing in the United States [ 34 ]. The breast cancer incidence in Africa continues to increase and is projected to double by 2050.
This review showed commonest age group was from 40 to 46 years ( 7 , 22 , 23 , 21 , 16 , 28 , and 20 ) which similar finding other African studies [ 35 , 36 , 37 ].
Regarding stage at presentation, most of the patients presented with late stages (stages 3 and 4), with a prevalence range of 57–71.2% [ 19 , 22 , 25 , 29 ]. which is supported by papers from Africa showed with 89.6% and 72.8% of breast patients in Kenya and Nigeria respectively presenting with advanced stage disease [ 38 , 39 , 40 ]. Studies in South Africa reported an advanced stage breast cancer incidence of 50 and 55% [ 40 ]. This review showed that early-stage (stages I and II) accounts for 15–35% [ 6 , 8 , 15 , 27 ]. Similar findings were found in other developing countries, where only 20–50% of patients in the majority of low- and middle-income countries were diagnosed in these earlier stages [ 39 ].
Breast lump or mass is the most common presenting symptom in all studies from various parts of the country, ranging from 57.4 to 88.4% [ 22 , 24 , 25 , 26 ].
Regarding histological findings of breast cancer in Ethiopia, the commonest histology is ductal carcinoma, followed by lobar carcinoma in all reviewed research and prevalence ranges (55.3–93.5%) [ 16 , 20 , 22 , 26 , 27 , 28 , 29 , 31 , 41 ].
The prevalence of hormone receptors and molecular subtypes is high; estrogen receptor positivity is the most common receptor and is found in more than 65% of breast cancer patients. In terms of molecular subtype, Luminal A (ER + and/or PR+, HER2-) is the most common finding in breast cancer biopsies, accounting for more than 40% of cases, while Triple Negative/Basal-like cases account for more than 15% of cases [ 20 , 29 ]. Similar finding from studies from south Africa showed Estrogen Receptor is the commonest hormone receptors [ 39 , 40 ].
This review showed surgery is the mainstay treatment for breast cancer in Ethiopia, and radiotherapy is only provided in the capital city on TASH. A similar study from Africa showed a mastectomy rate greater than 85% and a huge difference from Europe’s breast cancer mastectomy of 30% [ 41 ].
Only English language articles were included.
This review summarized the epidemiology, clinical and histological characteristics, and treatment modalities of breast cancer in Ethiopia. Breast cancer incidence is rising, and it accounts for the major cancer burden in the country. There is a need for additional awareness-raising and health education because delayed presentation is a critical problem throughout Ethiopia. For planning and monitoring cancer patterns, comprehensive demographic and clinical data from a population- or facility-based registry are needed. Currently, only one exists in the capital, the Addis Ababa City Cancer Registry (AACCR). There is a need to establish and strengthen histologic and pathology labs, as most hospitals are doing surgeries without histologic, molecular, or receptor identification since it helps with targeted therapy, according to what current best practice suggests. The available treatment options are still limited in Ethiopia; it needs Expanding radiation facilities is a major step toward improving outcomes for breast cancer patients.
All data generated or analysed during this study are included in supplementary file .
Addis Ababa City Cancer Registry
Ayder Comprehensive Specialized Hospital
Dessie Referral Hospital
Ethiopian Public Health Institute
Estrogen Receptor
Felege Hiwot Comprehensive specialized hospitals
Gondar University Comprehensive Specialized Hospital
Human Epidermal Receptor
Hawassa University Comprehensive Specialized Hospital
Institutional Review Board
Jimma University Medical Center
Low- and Middle-Income Country
Medical Subjects Headings
Modified Radical Mastectomy
Progesterone Receptor
Preferred Reporting Items for Systematic Reviews and Meta-Analyses
St. Paul’s Hospital Millennium Medical Collage
Tikur Anbesa specialized hospital
World Health Organization
WHO. Breast Cancer diagnosis, prevention and screening. World Health Organization, last Updated 26 March 2021.
Sharma R. Breast cancer incidence, mortality and mortality-to-incidence ratio (MIR) are associated with human development, 1990–2016: evidence from global burden of Disease Study 2016. Breast Cancer. 2019;26:428–45. [CrossRef].
Article PubMed Google Scholar
Ferlay J, Laversanne M, Ervik M, Lam F, Colombet M, Mery L, Piñeros M, Znaor A, Soerjomataram I, Bray F. Global Cancer Observatory: Cancer Tomorrow. International Agency for Research on Cancer: Lyon, France, 2020; Available online: https://gco.iarc.fr/tomorrow (accessed on 9 July 2021).
GLOBOCAN. 2020: The Global Cancer Observatory (GCO).
Dalal S, Beunza JJ, Volmink J, Adebamowo C, Bajunirwe F, Njelekela M, Mozaffarian D, Fawzi W, Willett W, Adami HO, Holmes MD. Non-communicable diseases in sub-saharan Africa: what we know now. Int J Epidemiol. 2011;40(4):885–901. https://doi.org/10.1093/ije/dyr050 .
Weigelt B, Horlings HM, Kreike B, Hayes MM, Hauptmann M, Wessels LFA, de Jong D, van de Vijver MJ, Van’t Veer LJ, Peterse JL. Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol. 2008;216(2):141–50. https://doi.org/10.1002/path.2407 .
Article CAS PubMed Google Scholar
Koboldt DC, Fulton RS, McLellan MD, Schmidt H, Kalicki-Veizer J, McMichael JF, Fulton LL, Dooling DJ, Ding L, Mardis ER, Wilson RK, Ally A, Balasundaram M, Butterfield YSN, Carlsen R, Carter C, Chu A, Chuah E, Chun HJE, Palchik JD. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61–70. https://doi.org/10.1038/nature11412 .
Article CAS Google Scholar
Howlader N, Altekruse SF, Li CI, Chen VW, Clarke CA, Ries LAG, Cronin KA. US incidence of breast cancer subtypes defined by joint hormone receptor and HER2 status. J Natl Cancer Inst. 2014;106(5). https://doi.org/10.1093/jnci/dju055 .
Edge SB, Byrd DR, Compton CC, et al. AJCC Cancer Staging Manual. 7th ed. New York: Springer; 2009. pp. 419–60.
Google Scholar
Centre for Disease Control and Prevention. How is breast cancer treated? Breast Cancer, https://www.cdc.gov/cancer/breast/basic_info/treatment.htm (2018, accessed 22 March 2019).
Kibret YM, Leka YA, Tekle NF, Tigeneh W. Patterns of cancer in Wolaita Sodo University Hospital: South Ethiopia. PLoS ONE. 2022;17(10):e0274792. https://doi.org/10.1371/journal.pone.0274792 .
Article CAS PubMed PubMed Central Google Scholar
PRISMA_2020_checklist (1).docx.
JBI Critical Appraisal Tools | JBI [Internet]. [cited 2023 Oct 20]. https://jbi.global/critical-appraisal-tools
Tigeneh W, Molla A, Abreha A, Assefa M. Pattern of Cancer in Tikur Anbessa Specialized Hospital Oncology Center in Ethiopia from 1998 to 2010. Int J Cancer Res Mol Mech. 1998;1. https://doi.org/10.16966/2381 .
Tefera B. (2019). patterns-of-cancer-in-university-of-gondar-hospital-northwest-ethiopia. annalsofoncology.org/article/S0923-7534(21)00727-. https://doi.org/10.1016/S0923-7534(21)00727-4
Hailu HE, Mondul AM, Rozek LS, Geleta T. Descriptive epidemiology of breast and gynecological cancers among patients attending Saint Paul’s Hospital Millennium Medical College, Ethiopia. PLoS ONE. 2020;15(3). https://doi.org/10.1371/journal.pone.0230625 .
Timotewos G, Solomon A, Mathewos A, Addissie A, Bogale S, Wondemagegnehu T, Aynalem A, Ayalnesh B, Dagnechew H, Bireda W, Kroeber ES, Mikolajczyk R, Bray F, Jemal A, Kantelhardt EJ. First data from a population based cancer registry in Ethiopia. Cancer Epidemiol. 2018;53:93–8. https://doi.org/10.1016/j.canep.2018.01.008 .
Memirie ST, et al. Estimates of Cancer incidence in Ethiopia in 2015 using population-based registry data. J Glob Oncol. 2018;4:1–11.
PubMed Google Scholar
Gebretsadik A, Bogale N, Negera DG. (2021). Epidemiological Trends of Breast Cancer in Southern Ethiopia: A Seven-Year Retrospective Review. Cancer Control , 28 . https://doi.org/10.1177/10732748211055262
Ersumo T. (n.d.). Breast Cancer in an Ethiopian Population, Addis Ababa. In East and Central African Journal of Surgery (Vol. 11, Issue 1).
Dagne S, Abate SM, Tigeneh W, Engidawork E. Assessment of breast cancer treatment outcome at Tikur Anbessa Specialized Hospital Adult Oncology Unit, Addis Ababa, Ethiopia. Eur J Oncol Pharm. 2019;2(2). https://doi.org/10.1097/OP9.0000000000000013 .
Tesfaw A, Tiruneh M, Tamire T, Yosef T. Factors associated with advanced-stage diagnosis of breast cancer in north-west Ethiopia: a cross-sectional study. Ecancermedicalscience. 2021;15. https://doi.org/10.3332/ECANCER.2021.1214 .
Ruhama Yoseph. 2021. Retrospective Analysis of Breast Cancer Cases Operated in Jush within Four Years Time Period, Jimma, Ethiopia, International Journal of Sciences, Office ijSciences, vol. 10(10), pages 4–21, October.
Gebremariam A, Addissie A, Worku A, Assefa M, Pace LE, Kantelhardt EJ, Jemal A. Time intervals experienced between first symptom recognition and pathologic diagnosis of breast cancer in Addis Ababa, Ethiopia: a cross-sectional study. BMJ Open. 2019;9(11). https://doi.org/10.1136/bmjopen-2019-032228 .
Hassen AM, Hussien FM, Asfaw ZA, Assen HE. Factors associated with delay in breast cancer presentation at the only oncology center in North East Ethiopia: a cross-sectional study. J Multidisciplinary Healthc. 2021;14:681–94. https://doi.org/10.2147/JMDH.S301337 .
Article Google Scholar
Deressa BT, Cihoric N, Badra EV, Tsikkinis A, Rauch D. Breast cancer care in northern Ethiopia-cross-sectional analysis. BMC Cancer. 2019;19(1). https://doi.org/10.1186/s12885-019-5612-6 .
jgo.org JGO-Journal of Global Oncology. Adequacy of pathologic reports of invasive breast Cancer from mastectomy specimens at Tikur. Anbessa Specialized Hospital Oncology Center in Ethiopia; 2018.
Gemta EA, Bekele A, Mekonen W, Seifu D, Bekurtsion Y, Kantelhardt EJ. Patterns of breast Cancer among Ethiopian patients: presentations and histopathological features. J Cancer Sci Therapy. 2019;11(2). https://doi.org/10.4172/1948-5956.1000581 .
Shenkutie B, Mekonnen Y, Seifu D, Abebe E, Ergete W, Damie A, Labisso L, W. Biological and Clinicopathological characteristics of breast Cancer at Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia. J Cancer Sci Therapy. 2017;9(12). https://doi.org/10.4172/1948-5956.1000504 .
Hadgu E, Seifu D, Tigneh W, Bokretsion Y, Bekele A, Abebe M, Sollie T, Merajver SD, Karlsson C, Karlsson MG. Breast cancer in Ethiopia: evidence for geographic difference in the distribution of molecular subtypes in Africa. BMC Women’s Health. 2018;18(1). https://doi.org/10.1186/s12905-018-0531-2 .
Kantelhardt EJ, Zerche P, Mathewos A, Trocchi P, Addissie A, Aynalem A, Wondemagegnehu T, Ersumo T, Reeler A, Yonas B, Tinsae M, Gemechu T, Jemal A, Thomssen C, Stang A, Bogale S. Breast cancer survival in Ethiopia: a cohort study of 1,070 women. Int J Cancer. 2014;135(3):702–9. https://doi.org/10.1002/ijc.28691 .
SM A. Trends of breast Cancer in Ethiopia. Int J Cancer Res Mol Mech (ISSN. 2016;2(1):2381–3318. https://doi.org/10.16966/2381-3318.121 .
Lima SM, Kehm RD, Terry MB. Global breast cancer incidence and mortality trends by region, age-groups, and fertility patterns. EClinicalMedicine. 2021;38. https://doi.org/10.1016/j.eclinm.2021.100985 .
Feuchtner J, Mathewos A, Solomon A, Timotewos G, Aynalem A, Wondemagegnehu T, Gebremedhin A, Adugna F, Griesel M, Wienke A, Addissie A, Jemal A, Kantelhardt EJ. Addis Ababa population-based pattern of cancer therapy, Ethiopia. PLoS ONE. 2019;14(9):e0219519.
Othieno-Abinya NA, Nyabola LO, Abwao HO, Ndege P. Postsurgical management of patients with breast cancer at Kenyatta National Hospital. East Afr Med J. 2002;79:156–62.
Amir H, Kaaya EE, Kwesigabo G, Kiitinya JN. Breast cancer before and during the AIDS epidemic in women and men: a study of Tanzanian Cancer Registry Data 1968 to 1996. J Natl Med Assoc. 2000;92:301–5.
CAS PubMed PubMed Central Google Scholar
Fregene A, Newman LA. Breast cancer in sub-saharan Africa: how does it relate to breast cancer in African-American. Women? Cancer. 2005;103:1540–50.
Jedy-Agba E, McCormack V, Adebamowo C, Dos-Santos-Silva I. Stage at diagnosis of breast cancer in sub-saharan Africa: a systematic review and meta-analysis. Lancet Glob Health. 2016;4(12):e923–35. https://doi.org/10.1016/S2214-109X(16)30259-5 . PMID: 27855871; PMCID: PMC5708541.
Article PubMed PubMed Central Google Scholar
Cubasch H, Joffe M, Hanisch R, Schuz J, Neugut AI, Karstaedt A, van den Broeze N, McCormack V, Jacobson JS. Breast cancer characteristics and HIV among 1,092 women in Soweto, South Africa. Breast Cancer Res Treat. 2013;140:177–86.
Langenhoven L, Barnardt P, Neugut AI, Jacobson JS. Phenotype and treatment of breast cancer in HIV-positive and -negative women in Cape Town, South Africa. J Glob Oncol. 2016;2(5):284–91.
Bhikoo R, Srinivasa S, Yu TC, Moss D, Hill AG. Systematic review of breast cancer biology in developing countries (part 1): Africa, the middle East, Eastern Europe, Mexico, the Caribbean and South America. Cancers (Basel). 2011;3:2358–81.
Download references
Not applicable.
No fund received for this work.
Authors and affiliations.
Departement of Research, Quality and patient safety, CURE International, Addis Ababa, Ethiopia
Firaol Guyassa Dandena
Department of Surgery, St. Paul’s Hospital Millennium Medical College, Addis Ababa, Ethiopia
Firaol Guyassa Dandena, Berhanetsehay Teklemariam Teklewold & Yisihak Debodina Suga
School of Public Health, Wolaita Sodo University, Wolaita Sodo, Ethiopia
Tadele Dana Darebo
You can also search for this author in PubMed Google Scholar
FGD and BTT developed the protocol, reviewed the reference list, extracted data, and conducted the analyses. TDD and YDS assessed the quality of the data, ensured the absence of errors and arbitrated in case of disagreement. FGD developed the draft manuscript and TDD critically reviewed it. All authors have read and agreed to the published version of the manuscript.
Correspondence to Firaol Guyassa Dandena .
Ethics approval and consent to participate, consent for publication, competing interests.
The authors declare no competing interests.
Publisher’s note.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Below is the link to the electronic supplementary material.
Rights and permissions.
Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ .
Reprints and permissions
Cite this article.
Dandena, F.G., Teklewold, B.T., Darebo, T.D. et al. Epidemiology and clinical characteristics of breast cancer in Ethiopia: a systematic review. BMC Cancer 24 , 1102 (2024). https://doi.org/10.1186/s12885-024-12822-5
Download citation
Received : 22 April 2024
Accepted : 19 August 2024
Published : 04 September 2024
DOI : https://doi.org/10.1186/s12885-024-12822-5
Anyone you share the following link with will be able to read this content:
Sorry, a shareable link is not currently available for this article.
Provided by the Springer Nature SharedIt content-sharing initiative
ISSN: 1471-2407
Your search term was too short.
Search terms must include 3 or more characters.
With digital opportunities sweeping the supply chain landscape, readiness and line of sight will be paramount to success
Enabled with a raft of technology developments, a new paradigm is emerging in supply chain management. One where organizations can respond quicker to day-to-day requests, proactively address problem solving, and reduce errors and inefficiencies. It can also provide greater visibility, transparency and traceability. Most importantly, organizations will be more resilient to future supply chain shocks.
With a future that promises autonomous, self-learning machines seamlessly managing the broader supply chain process, now is the time for organizations to overcome the inherent silos and enterprise systems that will restrict their progress.
To get started, organizations need to first embrace the trends that will define 2024. This includes learning about emerging technologies from AI to distributed ledger technologies, low-code and no-code platforms and fleet electrification. This will need to be followed by managing the migration to a new digital architecture and executing it flawlessly.
Organizations will need to intensely focus on mining relevant, clean and well-governed data if they want to make the most of their new technology investments. Data will also be crucial as organizations are pressured to meet evolving ESG and Scope 3 commitments.
These structural trends will shape new operating models and improve broad processes. To avoid being left behind, it is important for organizations to understand these trends and apply specific actions to begin their transformation sooner rather than later. This way they can create a more agile and responsive supply chain that can capture the promise of value creation, cost reduction and improved shareholder value.
Generative AI (GenAI) is a subset of AI that has the potential to revolutionize supply chain management, logistics and procurement. Software engines powered by GenAI can process much larger sets of data than previous forms of machine learning and can analyze an almost infinitely complex set of variables. GenAI can also learn —and teach itself — about the nuances of any given company’s supply chain ecosystem, allowing it to refine and sharpen its analysis over time.
The list of opportunities for GenAI is extensive. It can help ensure procurement and regulatory compliance, streamline, and enhance the efficiency of manufacturing production workflows, or enable virtual logistics communication by using virtual assistants to handle routine inquiries and provide quick responses.
The use of AI is an enterprise-wide consideration, organizations must avoid dissipating effort across several single point disconnected AI implementations. Core business processes should be strategically rethought and redesigned to effectively leverage GenAI.
Planning professionals need to increase their skills in analytical modeling capability, cross-functional expertise, and relationship management to maximize collaboration.
Make decision-making a business discipline: Be performance led: Start with performance goals – Don’t let technology dictate your decisions.
Blend expertise with data analytics: Inject data into your existing processes. Data management will be critical to success
Develop an ecosystem of technology partners, business integrators, and academic experts to access skilled individuals.
Through 2024, 50% of supply chain organizations will invest in applications that support artificial intelligence and advanced analytics capabilities. 1
With the continued focus on resilience and ESG coupled with the expansion of sites, flows, and partners, the pressure on supply chain planning is increasing. Existing planning capabilities have been unable to meet the demands of a more complex, multi-tiered, more nuanced world. The result is few companies can run effective scenario analysis to determine the financial consequences of important decisions.
AI enabled sales and operational planning (S&OP) and integrated business planning (IBP) applications will help eliminate the gap between supply chain planning and execution. Low touch planning will take large swaths of manual work out of the end-to-end planning process and leverage the power of advanced analytics to answer deeper questions with minimal human intervention. AI will be able to analyze data at scale, identify anomalies, search for patterns that lead to unexpected disruptions, and make suggestions on how to solve them—almost instantaneously.
From a technology perspective, the capabilities to enable low touch planning are like a control tower or its more advanced counterpart, the cognitive decision center which includes digital twin capabilities. These promise improved predictability, enhanced gross margins and free up resources to focus on value adding activities.
Low touch planning, improves predictability enhancing Return on Equity (ROE) by 2 to 4 percentage points, and adds 1 to 3 percent to gross margins across revenue, cost, and assets 2
Data is still one of the core challenges facing supply chain management. Each day millions and millions of date records are generated across the supply chain from multiple systems. The proliferation of digital technologies, IoT devices, and advanced tracking systems have compounded the problem. This wealth of data has given rise to greater silos of data within the organization which in turn has led to disconnected data sets. Duplication and misinterpretation will become increasingly problematic, too. Critically, the fragmentation of data impedes the creation of a holistic view of the organization’s supply chain.
Consequently, data availability, quality, cadence, and consistency – are now critical considerations. Supply chain professionals must manage the complexities within their data landscape efficiently; to be able to make informed decisions and enhance their operations.
A solution is to adopt a use case-driven approach to proactively address data quality issues. By focusing on specific use cases, organizations can prioritize data quality improvements where they matter most, thereby gradually refining and improving their datasets.
Placing a laser focus on the critical elements of data availability, quality, reliability, cadence, and consistency. Data is the linchpin that enables businesses to make informed decisions, optimize processes and ensure resilience in the face of disruptions
Acknowledge that data management is an ongoing journey rather than a one-time destination.
Take an iterative approach to data management. This allows organizations to refine their data strategies, adjust to changing circumstances, and learn from experience.
Develop a value-driven roadmap. Data must be aligned with a clear purpose and tied to value generation, such as cost savings, enhanced efficiency, improved customer satisfaction and innovation.
Low touch planning, improves predictability enhancing Return on Equity (ROE) by 2 to 4 percentage points, and adds 1 to 3 percent to gross margins across revenue, cost, and assets 3
The lack of visibility across the layered tiers of a supply chain has major implications for organizations across industries, particularly for meeting regulatory requirements, and for the identification and mitigation of supply chain risks.
Breaking the barrier of visibility beyond Tier 1 allows organizations to look across their extended supply chain into partners, build greater and deeper insights into root causes, identify new risks that occur further into the supply chain and drive ESG goals through better traceability and transparency.
Technology tools such as control towers and digital twins can surface critical sub-tier supplier relationships, highlight common sub-tier suppliers, factory locations and provide clear insight into the depth of an organization’s supply chain. When implemented at scale they can improve supply chain resilience.
Move towards a more collective and data-driven approach by using technology solutions and partnerships. Extend visibility of product flows to create more in-depth views of the supply chain ecosystem.
Create cross-functional teams to provide a fuller picture of key use cases, the scope of visibility and surfacing downstream problems.
Build on the visibility of others – with organizations each embarking on their own projects and control towers to build visibility, explore partnerships that may provide access to a wealth of data and insights.
Embed ESG measures within the technology for improved procurement decision making and performance management, and incorporate ESG performance metrics into supplier evaluations or scorecards.
Less than half (43%) Forty-three percent of organizations have limited to no visibility of tier one supplier performance 4
A supply chain is a dynamic and complex process that includes provisioning, raw material supply, warehousing and the distribution of manufactured products to consumers. Historically, this has resulted in multiple systems and data sources. Implementing software change in this environment is time consuming with a high probability of errors.
Most supply chain tasks can be fully or partly automated through low-code platforms, which use a wide range of Application Programming Interfaces (APIs) and pre-packaged integrations to link previously separate systems. These cut the development time, enabling companies to swiftly react and adapt their applications to new market conditions, disruptive events, or changing strategies. It enables business users with little technical knowledge to quickly build, test and implement new capabilities.
Potential applications span planning, manufacturing, product life cycle, supply chain collaboration, and track and trace. Low-code platforms are not just a technological upgrade; they represent a paradigm shift in how organizations approach their operations providing a pathway to a more agile and adaptable future.Consequently, data availability, quality, cadence, and consistency – are now critical considerations. Supply chain professionals must manage the complexities within their data landscape efficiently; to be able to make informed decisions and enhance their operations.
Define and document cross-functional processes, tasks, and timelines – identify suitable use cases..
Leverage low-code apps to go from managing supply chains to building agile, resilient and predictable supply chains.
Use low-code platforms to modernize legacy systems, automate processes and connect disconnected systems.
Empower stakeholders and business domain experts to create apps for insights, actionable tasks and collaboration in the supply chain.
More than two-thirds of enterprises have already adopted low-code to their supply chains 5
While many businesses have traditionally prioritized the collection of their Scope 1 (direct emissions) and Scope 2 (purchased electricity) emissions data, the focus has now shifted decisively toward Scope 3 emissions – that is, emissions incurred throughout the entire value chain. Although voluntary to date, the collection and reporting of Scope 3 emissions data is becoming a legal requirement in many countries.
Establishing a solid emissions baseline is essential for monitoring progress and setting ambitious reduction targets. Scope 1 and Scope 2 emissions are relatively straightforward to assess however, when extending this to the full supply chain, as in Scope 3, the complexity multiplies exponentially.
To target reductions in carbon emissions, companies need primary sources of information from their suppliers, and are starting to use hybrid carbon accounting methodologies to produce a more accurate assessment of Scope 3 emissions. Digital platforms are providing a centralized system for suppliers to input their emissions data, which can then be easily integrated into a company’s sustainability reporting.
Carry out supplier segmentation based on key criteria such as spend and criticality to business to identify and prioritize supply chain categories.
Establish and implement a supplier engagement program. Start educating suppliers about the significance of Scope 3 emissions data capture and your sustainability goals.
Analyze technology solutions for collecting carbon emissions data from your suppliers. Identify technology options that work for the size of your business and your industry and start implementation. Investing into technology solutions now will lead to cost savings in the long run.
Educate and support employees in understanding Scope 3 emissions, carbon reduction approaches and technology solutions to collect and manage carbon data. It is vital that a change management strategy is built into the decarbonization action plan.
Only 5% of supply chain emissions stem from direct manufacturing, whereas emissions originating within the supply chain can be 5 to 10 times greater 6
The logistics sector is also undergoing rapid transformation. Some elements of future-ready transport and logistics networks are already in evidence such as the automation of warehouses and ports, and the increasing use of autonomous vehicles. Their adoption will expand as organizations commit to emissions reduction targets and battery technology evolves to extend distance limits for electric trucks, buses and delivery vehicles.
Organizations will continue to accelerate the electrification and automation of the logistics transport value chain – especially those that remain costly or manual, such as processing of air freight and last mile delivery. Similarly, the transition from autonomous vehicles overseen by humans to fully automated vehicles without human intervention is almost ready to expand from controlled closed-loop environments to public roads.
Smart logistics and transport will also be accelerated with the continued ramp-up of AI, IoT, data analytics and cloud across many use cases – improving traditional route optimization and applying machine learning, predictive and sensing capabilities to make material improvements to network efficiency, customer experience, risk reduction and sustainability targets.
Conduct a fleet assessment to evaluate fleet composition, routes and usage patterns to identify opportunities for electrification, prioritizing vehicles that travel frequently in urban areas.
Identify broad transport and logistics automation opportunities to automate labor-intensive activities.
Analyze data from vehicle telematics, IoT devices, delivery data, customer satisfaction and sustainability information to drive decisions.
Develop a plan to transition delivery fleets to electric vehicles. New cloud-based AI driven technologies can simulate future transport network designs to optimize routes that reduce distance driven and prioritized routes and vehicles for electrification.
Embed sustainability at every step by looking across sourcing, planning, making, delivering and returns for opportunities to reduce vehicle tailpipe emissions.
Battery electric commercial vehicles (BECVs) could reach between15% and 34% sales penetration by 2030 7
As we stand on the brink of 2024, the supply chain landscape is on the cusp of profound transformation. AI and other advanced technologies are quickly reshaping the very core of supply chain management. KPMG professionals believe organizations with the right approach and culture can harness these seismic shifts.
In 2024 organizations could gain fundamental opportunity by focussing on the strategic application of GenAi, adopting a low-touch planning approach, striving for data excellence and transparency, adapting to low-code platforms, prioritizing Scope 3 ESG data reporting, and planning for the electric future. Time is of the essence, and those who are ready and willing to adapt quickly will be better able to unlock value, reduce costs and embrace new models of success.
How you can optimize your operations..
Global Sustainable Supply Chain Lead and Partner
KPMG Australia
1 https://www.gartner.com/en/articles/gartner-predicts-the-future-of-supply-chain-technology
2 KPMG case study analysis
3 https://www.prnewswire.com/news-releases/global-big-data-markets-report-2022-2027-challenges-and-opportunities-technologies-and-business-cases-regulatory-issues-industry-vertical-applications-companies-and-solutions-301471783.html
4 https://kpmg.com/uk/en/home/insights/2021/07/the-future-of-supply-chain.html
5 https://www.bloomberg.com/press-releases/2019-08-12/low-code-is-the-future-outsystems-named-a-leader-in-the-2019-gartner-magic-quadrant-for-enterprise-low-code-application
6 https://www.weforum.org/agenda/2021/01/tackling-supply-chain-emissions-is-a-game-changer-for-climate-action/
7 https://supplychaindigital.com/articles/logistics-readying-itself-for-ev-revolution
KPMG combines our multi-disciplinary approach with deep, practical industry knowledge to help clients meet challenges and respond to opportunities. Connect with our team to start the conversation.
IMAGES
VIDEO
COMMENTS
The application of systematic or structured literature reviews (SLRs) has developed into an established approach in the management domain (Kraus et al. 2020), with 90% of management-related SLRs published within the last 10 years (Clark et al. 2021).Such reviews help to condense knowledge in the field and point to future research directions, thereby enabling theory development (Fink 2010 ...
The present methodological literature review (cf. Aguinis et al., 2020) addresses this void and aims to identify the dominant approaches to sample selection and provide insights into essential choices in this step of systematic reviews, with a particular focus on management research.To follow these objectives, I have critically reviewed systematic reviews published in the two most prominent ...
As mentioned previously, there are a number of existing guidelines for literature reviews. Depending on the methodology needed to achieve the purpose of the review, all types can be helpful and appropriate to reach a specific goal (for examples, please see Table 1).These approaches can be qualitative, quantitative, or have a mixed design depending on the phase of the review.
Systematic literature reviews (SLRs) have become a standard tool in many fields of management research but are often considerably less stringently presented than other pieces of research.
Examples of literature reviews. Step 1 - Search for relevant literature. Step 2 - Evaluate and select sources. Step 3 - Identify themes, debates, and gaps. Step 4 - Outline your literature review's structure. Step 5 - Write your literature review.
The objective of this work is to review the literature of the main concepts that lead to determining the strategic approach, creation of strategies, organizational structures, strategy formulation, and strategic evaluation as a guide for the organizational management, taking into account the effects produced by the different types of strategies on the performance of organizations.
As mentioned above, writing your literature review is a process, which I'll break down into three steps: Finding the most suitable literature. Understanding, distilling and organising the literature. Planning and writing up your literature review chapter. Importantly, you must complete steps one and two before you start writing up your chapter.
A literature review is an essential component of almost any research project. It serves as the foundation for advancing knowledge, facilitates theory development, closes mature research areas, and uncovers novel research areas (Webster and Watson 2002).Frank and Hatak refer to a literature review as a "knowledge map", which analyzes and synthesizes prior literature.
1. Introduction. As management research grows in volume and scope, topic fragmentation and interconnection increase with other fields (Tranfield, Denyer, & Smart, 2003).To help make sense of this fragmentation of research, Transfield and colleagues introduced the management field to a tool used primarily in medicine/health called a systematic literature review ("SLR" going forward).
Literature reviews establish the foundation of academic inquires. However, in the planning field, we lack rigorous systematic reviews. In this article, through a systematic search on the methodology of literature review, we categorize a typology of literature reviews, discuss steps in conducting a systematic literature review, and provide suggestions on how to enhance rigor in literature ...
Exploring the Latest Trends in Management Literature, Volume 1. A Critical Review of Literature Review Methodologies. How to Plan and Write for Systematic Literature Review Papers in Management Domain. Parameters and Decision Elements of Writing Effective Literature Review Papers: Empirical Evidence From Multiple Stakeholders on POWER Framework.
A literature review as a study might serve multiple purposes. ... Report your results through clearly designed tables and figures that effectively communicate the process you followed and justify your results. ... Towards a methodology for developing evidence-informed management knowledge by means of systematic review. British Journal of ...
A literature review is a critical analysis and synthesis of existing research on a particular topic. It provides an overview of the current state of knowledge, identifies gaps, and highlights key findings in the literature. 1 The purpose of a literature review is to situate your own research within the context of existing scholarship, demonstrating your understanding of the topic and showing ...
"The literature review (narrative and systematic) is the foundation of new theory development. It gives substance to your empirical work, informs your research methods and analysis, and guides your business practices and actions. The Review of Management Literature is ideal in meeting the above in both academia and industry!"
Example: Predictors and Outcomes of U.S. Quality Maternity Leave: A Review and Conceptual Framework: 10.1177/08948453211037398 ; Systematic review: "The authors of a systematic review use a specific procedure to search the research literature, select the studies to include in their review, and critically evaluate the studies they find." (p. 139).
When searching the literature for pertinent papers and reviews, the usual rules apply: be thorough, use different keywords and database sources (e.g., DBLP, Google Scholar, ISI Proceedings, JSTOR Search, Medline, Scopus, Web of Science), and. look at who has cited past relevant papers and book chapters.
Abstract. The underlining presuppo sition and the supposition of performance management as a st udy field have been controversial. or have a non -defined concept ever s ince the field was introd ...
Systematic Literature Review in Management and Business Studies: A Case Study on University-Industry Collaboration. SAGE Publications Ltd. =====Although it first appeared in the medical sciences ...
With the sole focus toward review of literature, we are pleased to present "Review of Management Literature (RoML)" and introducing the first volume. This chapter and volume answers the present tensions accruing in the existing literature as well as present strategies on bridging the gaps. ... Report an issue or find answers to frequently ...
Technical reports are part of the "gray literature"; gray literature refers to documents that are not published commercially, hence they are difficult to both identify and find. Technical reports focus on a specific experiment or research project and are meant to convey the results of the experiment or project back to the funding organization.
Abstract. Librarians and information specialists have been finding ways to manage electronic resources for over a decade now. However, much of this work has been an ad hoc and learn-as-you-go process. Chapter 1 of Library Technology Reports (vol. 49, no. 2) "Techniques for Electronic Resource Management" shows that the literature on ...
Event Management Literature Review Example - Free download as PDF File (.pdf), Text File (.txt) or read online for free. Crafting a comprehensive literature review on event management is a complex endeavor that requires meticulous attention to detail and expertise in synthesizing diverse perspectives from a vast array of literature sources. The breadth of topics within event management, from ...
Coronary artery aneurysms (CAAs) are uncommon but significant cardiovascular abnormalities characterized by an abnormal increase in vascular diameter. CAAs are classified based on their shape as either saccular or fusiform, and their causes can range from atherosclerosis, Kawasaki disease, to congenital and iatrogenic factors. CAAs often present asymptomatically, but when symptoms occur, they ...
Data was gathered from annual reports spanning the years 2007-2019, resulting in a total of 1044 firm-year observations. Panel data models were employed for the analysis. ... The development of earnings management research: a review of literature from three different perspectives. Zeszyty Teoretyczne Rachunkowości 79(135):135-177. Article ...
Sustainability integration in project portfolio management helps shape strategic, organizational, and project-based contexts. The authors conducted a structured literature review from 2000 to 2021 and developed a novel integrative framework presenting a holistic view highlighting three substantive research themes: sustainability mindset, sustainability assessment, and sustainability ...
Literature review on management of prosthetic graft infections after supra-aortic bypass surgery, based on a case report. ... But due to rarity, only case reports are available, so no strong recommendations can be formulated. International registries should be initiated to share experiences and provide data for decent analysis of short, mid and ...
The ability to find, understand, appraise and utilise health information is crucial among individuals living with rare disorders. The aim of this study was to give a comprehensive overview of the literature on health literacy in adult persons with rare disorders. We applied a scoping review methodology and performed a systematic search in 2021 in bibliographic databases.
Intraosseous myofibroma of the jaw is a rare neoplasm of mesenchymal origin with limited comprehensive understanding. It typically affects patients in the first two decades of life with a male predilection. This study presents a rare case of myofibroma mimicking an odontogenic lesion in a 2-year-old boy. The patient presented with an incidental finding of a painless swelling of the right ...
According to GLOBOCAN 2020 Breast cancer is the most common cancer among women and the prevalence is increasing worldwide and in Ethiopia. This review assessed studies conducted in Ethiopia on the clinical features and epidemiology of breast cancer. Data base search conducted PubMed, Google Scholar African Journals Online (AJOL), Cumulative Index of Nursing and Allied Health Literature (CINAHL ...
Generative AI (GenAI) is a subset of AI that has the potential to revolutionize supply chain management, logistics and procurement. Software engines powered by GenAI can process much larger sets of data than previous forms of machine learning and can analyze an almost infinitely complex set of variables.