🩺 Chapter 744 · Ehlers-Danlos Syndrome (EDS)

🔑 Key Principles — Nelson Chapter 744
• Hypermobile EDS (hEDS): Most common, unknown gene. Generalized joint hypermobility (Beighton ≥6), skin hyperextensibility (mild), chronic pain, fatigue, dysautonomia (POTS). No specific genetic test (clinical diagnosis). Treatment: physical therapy (strengthening, proprioception), pain management, avoid overstretching.
• Classical EDS (cEDS, COL5A1/COL5A2): Skin hyperextensibility, widened atrophic scars (cigarette-paper scars), velvety skin, easy bruising, joint hypermobility, molluscoid pseudotumors. Autosomal dominant.
• Vascular EDS (vEDS, COL3A1): Most serious. Risk of arterial, bowel, uterine rupture. Thin translucent skin, easy bruising, acrogeria (aged hands), small joint hypermobility, characteristic facies (thin nose, prominent eyes). Median survival ~50 years. Avoid contact sports, arteriography, colonoscopy. Celiprolol (β1 antagonist/β2 agonist) may reduce vascular events.
• Kyphoscoliotic EDS (kEDS, PLOD1): Congenital kyphoscoliosis, joint hypermobility, ocular fragility (globe rupture), muscle hypotonia. AR. Urine: increased ratio deoxypyridinoline/pyridinoline.
• Arthrochalasia EDS (aEDS, COL1A1/COL1A2): Congenital hip dislocation, severe joint hypermobility, skin hyperextensibility. AD.
• Dermatosparaxis EDS (dEDS, ADAMTS2): Redundant sagging skin, easy bruising, hernias. AR.