CEREBROVASCULAR COMPLICATIONS IN EHLERS-DANLOS SYNDROME TYPE-IV

Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant disorder that results from mutations in the COL3A1 gene, which encodes chains of type III procollagen. Individuals with this disorder are predispose d to rupture of arteries, the bowel, and the gravid uterus. To assess the frequency of central nervous system complications, we reviewed cli nical data concerning 202 individuals with EDS type IV from 121 famili es in which the diagnosis was confirmed by biochemical or molecular st udies. We identified 19 individuals with cerebrovascular complications , which included intracranial aneurysms with secondary hemorrhage, spo ntaneous carotid-cavernous sinus fistula, and cervical artery dissecti on. The mean age at presentation with these events was 28.3 years (ran ge, 17-48 years). Although uncommon, EDS type IV is an important poten tial cause of stroke in young people. The disorder is readily identifi able clinically and the diagnosis has important implications for acute and long-term management and, potentially, for other family members. Because conventional angiography may exacerbate severe complications, noninvasive procedures such as Doppler and magnetic resonance angiogra phy are the investigations of choice. Anticoagulation therapy may resu lt in increased bruising or bleeding and should be used with caution.