Background & Aims
Ehlers-Danlos syndrome (EDS) is an umbrella term for several different diseases caused by connective tissue changes, which in turn can affect joints, skin, blood vessels and internal organs (1). EDS occurs in both men and women and can begin at an early age. It is common to have hypermobile joints, stretchable and soft skin and fragile vessel walls and also other associated comorbidities. EDS of the hypermobility type is by far the most common form. The symptoms of hypermobility spectrum disorder (HSD) and hypermobility-type EDS are similar. The diagnoses HSD and EDS hypermobility type are criteria-based and have a heterogeneous symptom picture. Patients’ complaints can vary from mild to very severe. In Sweden, the incidence of EDS is generally estimated at about 10 per 100,000 inhabitants though the overall prevalence is uncertain, not fully investigated in the scientific literature. The aim of this systematic review was to establish the prevalence of EDS in the general population.
Methods
A search strategy was set up and Prospero protocol is registered (under review). The systematic literature search will be performed in databases Ovid MEDLINE, Ovid Embase, CINAHL and PEDro. The selection will be reported in accordance with PRISMA guidelines. All identified titles and abstracts are screened by two of four reviewers, and remaining references will be read in full text by all co-authors to evaluate the relevance for inclusion. Rayyan (2) and Covidence (3) will be used in the selection process. The final sample will be assessed for risk of bias (RoB) using the The Joanna Briggs Institute Critical Appraisal tools (4) and the Risk of Bias Tool for Prevalence Studies (5). When considering the impact on the certainty of evidence for each outcome we will use GRADE (6). A narrative analysis and a meta-analysis will be presented where appropriate for both the prevalence of EDS and HSD stratified by age. A pilot search has been performed awaiting the full search.
Results
Preliminary database searches were performed on January 26th 2024, resulting in a total of 3821 articles in Medline (n=1120), Embase (n=2267), CINAHL (n=392 and PEDro (n=42). After automatic deduplication in Covidence a total of 2585 articles remain. These will all be screened for initial relevance and based on this the final search will be done, after the Prospero protocol is finalised.
Conclusions
This systematic review will provide the world prevalence of EDS and HSD. The preliminary search indicate that we will be able to perform meta-analysis rendering a pooled world prevalence estimate.
Individuals with EDS and HSD often describe the time between symptom onset and diagnosis as long and troublesome. Increased knowledge on the population prevalence within different age groups will serve as an initial help to put focus on the patient group and the occurrence of disease which is a prerequisite for better care and treatment options.
References
1.Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers-Danlos syndromes. Nature reviews Disease primers. 2020;30(1):64.
2.Rayyan.ai. Rayyan [Internet] 2024 [Available from: https://www.rayyan.ai/.
3.Covidence. Covidence [Internet]. 2024[Available from: Covidence – Better systematic review management.
4.Munn Z, Moola S, Riitano D, Lisy K. The development of a critical appraisal tool for use in systematic reviews addressing questions of prevalence. Int J Health Policy Manag. 2014;3(3):123-8.
5.Hoy D, Brooks P, Woolf A, Blyth F, March L, Bain C, et al. Assessing risk of bias in prevalence studies: modification of an existing tool and evidence of interrater agreement. Journal of clinical epidemiology. 2012;65(September):934-9.
6.GRADE working group. GRADE [Internet] [Available from: https://www.gradeworkinggroup.org/.
7.Andersson LK, Lane KR. The diagnostic journey in adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. Journal of the American Association of Nurse Practitioners. 2021;3(4):639-48.
8.Grahame R. Joint hypermobility: emerging disease or illness behaviour? Clinical Medicine. 2013.
9.Kumar B, Lenert P. Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. The American journal of medicine. 2017;130(6):640-7.
10.Malini A. A Systematic Review of the Beighton Score Compared with Other Commonly Used Measurement Tools for Assessment and Identification of Generalised Joint Hypermobility (GJH). 2022.
11.Beighton P, Paepe AD, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). American Journal of Medical Genetics 1998;28(April):31-7.
Presenting Author
Ms Ida Carnerup. Department of clinical sciences Lund, Lund university, Lund Sweden
Poster Authors
Ida Carnerup
MSc
Researchgroup Applied Epiedomiolgy/ Dpt of Pain Rehabilitation, SUS Sweden
Lead Author
Anna Trulsson Schouenborg
Researchgroup Applied Epidemiology / Dpt of Pain Rehabilitation, Sus, Sweden
Lead Author
Elisabeth Bondesson (PhD)
Department of clinical sciences Lund, Lund university, Lund Sweden
Lead Author
Eric Ahl
HTA south, Departement of Research and education, Skåne university hospital, Lund Sweden
Lead Author
Topics
- Systematic Reviews/Meta-Analysis