Current management of the vascular subtype of Ehlers-Danlos syndrome.

Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is the most severe form of EDS, affecting the synthesis of type III collagen. It is notable for decreased life expectancy and morbidity, including spontaneous vessel rupture. The present review summarizes recent findings that have improved the ability to manage and delineate the natural history of vEDS. Recent EDS consortium guidelines for the diagnosis of vEDS have emerged and outlined clinical features and molecular diagnostic tools to help facilitate rapid diagnosis. Although medical interventions to help halt the disease progression remain limited, improved awareness of vEDS by patients and practitioners have resulted in increased average life expectancy. Early excitement with celiprolol has been tempered by a lack of high-quality studies. Likewise, the creation of multidisciplinary care teams and tertiary referral centers is helping improve outcomes. Unfortunately, there remain limitations in terms of the surgical management (including more advanced endovascular techniques) of these patients and the morbidity associated with these interventions. Although new consensus guidelines have emerged to facilitate the diagnosis of those with vEDS, there remain limitations in terms of interventions and medical therapy that can be provided for these patients. Life expectancy does appear to be improving however with increased awareness and coordinated multidisciplinary efforts among medical geneticists, general practitioners, and interventionalists alike.