Last updated 3mo ago
Log in to add personal notes on this page.
A 30-year-old woman presents with sudden abdominal pain. CT reveals a spontaneous sigmoid colon perforation. She has thin, translucent skin with visible veins and a history of a spontaneous arterial dissection.
AD; COL3A1 (type III collagen)
- Thin, translucent skin with visible veins
- Arterial rupture/dissection (medium-sized arteries)
- Bowel rupture (usually sigmoid)
- Uterine rupture during pregnancy
- Characteristic facies: thin lips, small chin, prominent eyes
- Minimal skin hyperextensibility (different from other EDS)
- Median lifespan ~50 years
- COL3A1 genetic testing
- Avoid invasive procedures, contact sports
- Celiprolol (β-blocker) may reduce vascular events
- High-risk pregnancy
Key point: vEDS is the MOST dangerous EDS subtype - life-threatening vascular/organ rupture