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Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison
  1. Joanne C Demmler1,
  2. Mark D Atkinson1,
  3. Emma J Reinhold2,
  4. Ernest Choy3,
  5. Ronan A Lyons1,
  6. Sinead T Brophy1
  1. 1 Swansea University Medical School, Swansea University, Swansea, UK
  2. 2 Royal College of General Practitioners, London, UK
  3. 3 School of Medicine, Cardiff University, Cardiff, UK
  1. Correspondence to Dr Joanne C Demmler; j.demmler{at}swansea.ac.uk; Dr Emma J Reinhold; e.reinhold{at}doctors.org.uk

Abstract

Objectives To describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To examine whether these conditions remain rare and primarily affect the musculoskeletal system.

Design Nationwide linked electronic cohort and nested case–control study.

Setting Routinely collected data from primary care and hospital admissions in Wales, UK.

Participants People within the primary care or hospital data systems with a coded diagnosis of EDS or joint hypermobility syndrome (JHS) between 1 July 1990 and 30 June 2017.

Main outcome measures Combined prevalence of JHS and EDS in Wales. Additional diagnosis and prescription data in those diagnosed with EDS or JHS compared with matched controls.

Results We found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100 000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. There was a pronounced gender difference of 8.5 years (95% CI: 7.70 to 9.22) in the mean age at diagnosis. EDS or JHS was not only associated with high odds for other musculoskeletal diagnoses and drug prescriptions but also with significantly higher odds of a diagnosis in other disease categories (eg, mental health, nervous and digestive systems) and higher odds of a prescription in most disease categories (eg, gastrointestinal and cardiovascular drugs) within the 12 months before and after the first recorded diagnosis.

Conclusions EDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered.

  • heritable disorders of connective tissue
  • Ehlers-Danlos syndromes
  • joint hypermobility syndrome
  • hypermobility spectrum disorder
  • health data linkage
  • prevalence

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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Footnotes

  • Twitter @JCDemmler

  • Contributors JCD conceived the project. STB and MDA contributed to the study design and analysis plan. RAL validated clinical codes in primary care. EC validated clinical codes in secondary care. JCD undertook the analysis. JCD and EJR carried out the literature reviews and drafted the manuscript. All authors reviewed the manuscript and approved the final version for submission.

  • Funding This work was supported by The Farr Institute. The Farr Institute was supported by a 10-funder consortium: Arthritis Research UK, the British Heart Foundation, Cancer Research UK, the Economic and Social Research Council, the Engineering and Physical Sciences Research Council, the Medical Research Council, the National Institute of Health Research, the National Institute for Social Care and Health Research (Welsh Assembly Government), the Chief Scientist Office (Scottish Government Health Directorates) and the Wellcome Trust (MRC Grant No: MR/K006525/1). This work was also supported by Health Data Research UK which receives its funding from HDR UK Ltd (NIWA1) funded by the UK Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Department of Health and Social Care (England), Chief Scientist Office of the Scottish Government Health and Social Care Directorates, Health and Social Care Research and Development Division (Welsh Government), Public Health Agency (Northern Ireland), British Heart Foundation (BHF) and the Wellcome Trust. The above funders played no role in the study design, in the collection, analysis, or interpretation of data; in the writing of the report; or in the decision to submit the article for publication. The researchers are independent from the funders and all authors, external and internal, had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval The SAIL independent Information Governance Review Panel approved the study.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data may be obtained from a third party and are not publicly available.

  • Author note The authors are planning to disseminate our results to patient groups using social media.

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