Contemporary management of vascular Ehlers–Danlos syndrome

Abstract

Vascular Ehlers-Danlos syndrome (EDS) results from mutations in the formation of type III collagen. This leads to various potentially lethal complications including rupture of the arterial vessels, intestinal organs, and the uterus. This review summarizes recent cohort studies that have improved our medical and surgical management of complications associated with vascular EDS. Vascular EDS is associated with a shortened overall survival due to potential complications, namely loss of connective tissue integrity in blood vessels and increased risk of arterial rupture. The traditional approach has been to treat such complications conservatively unless they are life threatening. There have been challenges to this treatment paradigm based on recent reports. Treatment with the beta blocker Celiprolol was shown in a randomized study to be associated with a three-fold decrease in arterial rupture in vascular EDS patients. Furthermore, it was shown by observational studies that elective surgical repair of blood vessels at risk of rupture may be safely undertaken at tertiary referral centers that have expertise in managing connective tissue disorders. Novel approaches using endovascular therapy with coil embolization have also been attempted with good results in the treatment of ruptured pseudoaneurysms, visceral aneurysms, and carotid-cavernous fistulas. New evidence-based treatments have greatly expanded the medical and surgical management options for patients with EDS. These patients are best managed by multidisciplinary teams of interventionalists, cardiologists, and geneticists in tertiary centers with expertise in managing connective tissue disorders.