Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia

Background and Purpose-Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for developing cerebral vascular malformations and pulmon ary arteriovenous fistulae. We assessed the risk of neurological dysfunctio n from these malformations and fistulae. Methods-Three hundred twenty-one consecutive patients with HHT seen at a si ngle institution over a 20-year period were studied, Any evidence of prior neurological symptoms or presence of an intracranial vascular malformation was recorded. All cases of possible cerebral arteriovenous malformation wer e confirmed by conventional arteriography. Results-Twelve patients (3.7%) had a history of cerebral vascular malformat ions. Ten patients had arteriovenous malformations, 1 had a dural arteriove nous fistula, and 1 had a cavernous malformation. Seven patients (2.1%) pre sented with intracranial hemorrhage, 2 presented with seizures alone, and 3 were discovered incidentally. The average age at the time of symptomatic i ntracranial hemorrhage was 25.4 years. All patients with a history of intra cranial hemorrhage were classified as Rankin grade I or II at a mean follow -up interval of 6.0 years. A history of cerebral infarction or transient is chemic attack was found in 29.6% of patients with HHT and a pulmonary arter iovenous fistula. Conclusions-The risk of intracranial hemorrhage is low among people with HH T. Furthermore, a majority of these patients have a good functional outcome after hemorrhage. The data do not suggest a compelling indication for rout ine screening of patients with I-BIT for asymptomatic cerebral vascular mal formations. By comparison, pulmonary arteriovenous fistulae are a much more frequent cause of neurological symptoms in this population.