Ehlers Danlos Syndromes (EDS)
Ehlers Danlos syndrome encompasses a spectrum of inherited connective tissue disorders characterised by skin fragility, joint hypermobility, and tissue vulnerability. Thirteen subtypes are currently recognised, with hypermobile EDS (hEDS), classical EDS (cEDS), and vascular EDS (vEDS) being the most common. Over 50% with hEDS report chronic gastrointestinal symptoms, including bloating, abdominal pain, reflux, nausea, early satiety, constipation, and dyspepsia.
Key clinical features
Skin and scars:
Easily bruised, soft, hyperextensible skin; thin, atrophic; scars in cEDS; translucent skin in vEDS.
Joint hypermobility:
Generalised hypermobility leading to frequent dislocations, pain, and early-onset osteoarthritis; assessed via Beighton score.
Vascular complications:
vEDS carries a high risk of arterial, GI, or uterine rupture; echocardiography and vascular imaging are essential.
Symptom management is most effective when delivered through a coordinated, multidisciplinary team approach.
Source references
Ghali N, Sobey G, Burrows N (2019) ‘Ehlers-Danlos syndromes’, BMJ, 366, l4966. doi: 10.1136/bmj.l4966.
Pezaro S, Pearce G, Reinhold EJ (2021) ‘A clinical update on hypermobile Ehlers-Danlos syndrome during pregnancy, birth and beyond’, British Journal of Midwifery, 29(9), pp. 492–500. doi: 10.12968/bjom.2021.29.9.492.
Anderson LK (2015) ‘Nursing management of patients with Ehlers–Danlos syndrome’, American Journal of Nursing, 115(7), pp. 38–46.
Bowen JM et al. (2023) ‘Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield’, European Journal of Human Genetics, 31, pp. 749–760. doi: 10.1038/s41431-023-01343-7.
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