Ehlers-Danlos syndromes
BMJ 2019; 366 doi: https://doi.org/10.1136/bmj.l4966 (Published 18 September 2019) Cite this as: BMJ 2019;366:l4966
- Neeti Ghali, consultant clinical geneticist1,
- Glenda Sobey, consultant dermatologist and clinical lead2,
- Nigel Burrows, consultant dermatologist3
- 1North West Thames Regional Genetics Service and National EDS Service, London North West University Healthcare NHS Trust, Harrow HA1 3UJ, UK
- 2National EDS Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK
- 3Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK
- Correspondence to: N Ghali neeti.ghali{at}nhs.net, G Sobey Glenda.sobey{at}nhs.net
What you need to know
Ehlers-Danlos syndromes (EDS) are inherited connective tissue disorders with variable severity; features include skin fragility, joint hypermobility, and rupture of blood vessels and internal organs
Consider the diagnosis of an EDS subtype in patients with any combination of easy bruising, poor scar formation, hyperextensible skin, joint hypermobility, joint pains without evidence of arthritis, and unexplained arterial or bowel rupture
Joint hypermobility alone is not enough to diagnose an EDS subtype, and not all types of EDS have pronounced hypermobility
Thirteen different types of EDS are currently recognised, with the molecular basis known in all except for hypermobile EDS
Genetic testing is recommended for EDS types with a known molecular cause to confirm the diagnosis.
Awareness of the Ehlers-Danlos syndromes (EDS) in the UK has risen over the past decade, in part due to high profile of EDS patient organisations and the EDS National Diagnostic Service commissioned in 2009. Significant advances in genetic testing have culminated in the publication of a new international classification in 2017 with 13 types identified.1 Clinicians will see an increasing number of patients, some of whom will suspect a diagnosis of EDS themselves.
This article is intended to support non-specialist clinicians to consider the diagnosis of this group of conditions in appropriate patients. It discusses the features of the different types of EDS and explains how clinicians can expect their patients to be managed in secondary care.
How this article was created
The authors are members of the International Consortium on Ehlers-Danlos Syndromes and Related Disorders and participated in literature searches used for the basis of the articles written on the new classification of EDS published in 2017. The authors have more than 10 years’ experience of EDS patient consultations and data collection in the highly specialised EDS service.
What are the Ehlers-Danlos syndromes?
Ehlers-Danlos syndromes (EDS) refer to a group of inherited connective tissue …
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