Vascular Ehlers-Danlos syndrome

Disease Overview

Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs.[8950][8974] Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene.[13312] Inheritance is autosomal dominant.[8974] Treatment and management is focused on preventing serious complications and relieving signs and symptoms.[8974][8955]

Synonyms

• Ehlers Danlos syndrome, ecchymotic type
• Ehlers Danlos syndrome, arterial type
• Ehlers Danlos syndrome, Sack-Barabas type
• EDS4 (formerly)
• Ehlers-Danlos syndrome type 4 (formerly)
• EDS IV (formerly)
• Ehlers-Danlos syndrome, vascular type
• Vascular EDS
• vEDS
• EDS type 4 (formerly)
• Ehlers-Danlos syndrome type IV (formerly)
• Sack-Barabas syndrome
• Arterial-ecchymotic EDS
• EDS IV
• EDS type 4
• Ehlers-Danlos syndrome type 4
• Ehlers-Danlos syndrome type IV