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Hypermobile Ehlers-Danlos Syndrome (hEDS)
Hypermobile Ehlers-Danlos Syndrome (hEDS) is a heritable connective tissue disorder characterized by generalized joint hypermobility, skin hyperextensibility, and tissue fragility. Connective tissue is the 'glue' of the body, so defects can lead to widespread multi-systemic issues.
Common Symptoms
Joint hypermobility, subluxations, and dislocations
Chronic musculoskeletal pain
Skin that is soft, velvety, and mildly stretchy
Easy bruising and poor wound healing
Gastrointestinal dysmotility
Causes & Triggers
- Genetic inheritance (autosomal dominant), though the specific gene(s) for hEDS are currently unknown
- Hormonal fluctuations (relaxin and progesterone can increase laxity)
- Physical trauma or repetitive strain
Diagnosis
Diagnosis is clinical, based on the 2017 International Classification of the Ehlers-Danlos Syndromes. It requires meeting specific criteria including generalized joint hypermobility (measured by the Beighton score), evidence of syndromic features or family history, and exclusion of other connective tissue disorders.
Treatment Approaches
Physical therapy focusing on core strength and joint stabilization (isometric exercises)
Pain management strategies
Assistive devices (braces, splints, ring splints)
Managing comorbidities (like POTS and MCAS)
Pacing and energy conservation
Research & Sources
The 2017 international classification of the Ehlers–Danlos syndromes
American Journal of Medical Genetics Part C: Seminars in Medical GeneticsView Source
Hypermobile Ehlers-Danlos syndrome: Clinical description and natural history
American Journal of Medical Genetics Part CView Source