A 22-year-old man has hyperextensible skin, cigarette-paper scars over the knees, joint hypermobility with recurrent dislocations, and easy bruising. Which subtype of Ehlers-Danlos syndrome carries the greatest risk of death from arterial rupture?
- A Vascular type (COL3A1) ✓
- B Hypermobility type
- C Classical type (COL5A1/COL5A2)
- D Kyphoscoliotic type (PLOD1)
Correct answer: A. Vascular type (COL3A1)
Explanation
Vascular EDS, caused by COL3C1 mutations affecting type III collagen, presents with thin translucent skin over visible veins, easy bruising, and characteristic acrogeric facies, and carries life-threatening risks of arterial, bowel, and uterine rupture. Classical EDS has stretchy skin and atrophic scars but normal vessel strength, while the hypermobility type has minimal skin changes.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
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