Ehlers-Danlos syndrome type IV: a heterogeneous disease

Abstract

The Ehlers-Danlos syndrome is an inherited disorder of connective tissue, consisting of at least 10 different clinical subtypes. Type IV Ehlers-Danlos syndrome is an autosomal dominant condition characterized by the joint and dermal manifestations as in other forms of the syndrome but also by the proneness to spontaneous rupture of bowel and large arteries. The authors describe their experience with three patients presenting type IV Ehlers-Danlos syndrome: the first presented with several subsequent arterial ruptures, the second with multiple aneurysms, and the third with a dissection of the internal carotid artery. Clinical features, incidence, diagnosis, and treatment of the syndrome are discussed.