Home Ehlers Danlos Syndrome (EDS): Vascular

Ehlers Danlos Syndrome (EDS): Vascular


Defining Characteristics

Arterial, digestive, uterine rupture/fragility, characteristic facial appearance (acrogeria, tightened skin over face, hollow cheeks, thin upper lip and skin), extensive bruising, spontaneous pneumo/hemothorax, hypermobility of small joints, talipes equinovarus (clubfoot)

Disease Development

Dominant-negative mutations in pro-a1(III) chain of collagen type 3

Risk factors

Autosomal dominant inheritance Family history
Sudden death in close relative


Clinical genetic testing

Conventional Treatment

Celiprolol (cardioprotective)


Very severe – dissection of carotid artery, arterial/digestive/ uterine fragility or rupture
80% develop significant med probs by age 40
Sudden death (median age 48)