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Cerebrovascular complications in Ehlers‐Danlos syndrome type IV
Author(s) -
North Kathryn N.,
Whiteman David A. H.,
Pepin Melanie G.,
Byers Peter H.
Publication year - 1995
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410380620
Subject(s) - ehlers–danlos syndrome , medicine , magnetic resonance angiography , cervical artery , stroke (engine) , angiography , dissection (medical) , magnetic resonance imaging , surgery , fistula , radiology , engineering , mechanical engineering
Ehlers‐Danlos syndrome (EDS) type IV is an autosomal dominant disorder that results from mutations in the COL3A 1 gene, which encodes chains of type III procollagen. Individuals with this disorder are predisposed to rupture of arteries, the bowel, and the gravid uterus. To assess the frequency of central nervous system complications, we reviewed clinical data concerning 202 individuals with EDS type IV from 121 families in which the diagnosis was confirmed by biochemical or molecular studies. We identified 19 individuals with cerebrovascular complications, which included intracranial aneurysms with secondary hemorrhage, spontaneous carotidcavernous sinus fistula, and cervical artery dissection. The mean age at presentation with these events was 28.3 years (range, 17–48 years). Although uncommon, EDS type IV is an important potential cause of stroke in young people. The disorder is readily identifiable 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 angiography are the investigations of choice. Anticoagulation therapy may result in increased bruising or bleeding and should be used with caution.