Vascular Ehlers-Danlos Syndrome: Pathophysiology, Diagnosis, and Prevention and Treatment of Its Complications

The Ehlers-Danlos syndrome consists of a group of inherited connective tissue disorders caused by defects in the synthesis of collagen. The vascular type 4 form of Ehlers-Danlos syndrome (VEDS) is associated with serious vascular complications in young adults, such as the spontaneous rupture of large-caliber and medium-caliber arteries, often without true aneurysm formation or dissection. VEDS is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene. It affects the synthesis and structure of the pro alpha 1 (III) chain of collagen type III, which causes vascular wall weakness. The diagnosis of VEDS is made from major and minor clinical criteria and can be confirmed by abnormalities in procollagen production and molecular genetic testing. Recently, the results of a study using the beta-blocker celiprolol demonstrated a reduction in vascular complications of VEDS. The mechanisms of benefit may be related to a reduction in vascular hemodynamic stress with exercise and/or through a reduction in transforming growth factor-beta. Inhibitors of the renin-angiotensin system may also be beneficial in VEDS. Surgery may be beneficial in treating the complications of VEDS.