Hypermobile Ehlers-Danlos syndrome (hEDS)
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A 25-year-old woman presents with chronic joint pain and recurrent dislocations. She has soft, mildly stretchy skin and scores 7/9 on the Beighton scale. She also reports POTS-like symptoms and functional GI issues.
Unknown (no gene identified); clinical diagnosis only
- Likely polygenic/multifactorial
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Generalized joint hypermobility (Beighton score)
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Chronic pain, fatigue
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Recurrent joint subluxations/dislocations
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Mild skin hyperextensibility (less than cEDS)
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Associated conditions: POTS, functional GI disorders, mast cell activation syndrome
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Must exclude other heritable connective tissue disorders
Important: hEDS is the ONLY EDS subtype without a known gene - all other EDS subtypes have molecular diagnoses
- Clinical criteria (2017 international classification)
- Supportive, multidisciplinary care (no disease-modifying therapy)
- Physical therapy emphasizing joint stabilization and low-impact strengthening
- Pain management and bracing for recurrent subluxations
- Treat associated conditions: POTS (volume/salt, compression), functional GI symptoms, mast cell activation syndrome