Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia.
OBJECTIVE
Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for developing cerebral vascular malformations and pulmonary arteriovenous fistulae. We assessed the risk of neurological dysfunction from these malformations and fistulae.


METHODS
Three hundred twenty-one consecutive patients with HHT seen at a single 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 were confirmed by conventional arteriography.


RESULTS
Twelve patients (3.7%) had a history of cerebral vascular malformations. Ten patients had arteriovenous malformations, 1 had a dural arteriovenous fistula, and 1 had a cavernous malformation. Seven patients (2.1%) presented with intracranial hemorrhage, 2 presented with seizures alone, and 3 were discovered incidentally. The average age at the time of symptomatic intracranial hemorrhage was 25.4 years. All patients with a history of intracranial 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 ischemic attack was found in 29.6% of patients with HHT and a pulmonary arteriovenous fistula.


CONCLUSIONS
The risk of intracranial hemorrhage is low among people with HHT. Furthermore, a majority of these patients have a good functional outcome after hemorrhage. The data do not suggest a compelling indication for routine screening of patients with HHT for asymptomatic cerebral vascular malformations. By comparison, pulmonary arteriovenous fistulae are a much more frequent cause of neurological symptoms in this population.
Departments of Neurosurgery, Mayo Clinic, Rochester, Minnesota, USA. maher.cormac@mayo.edu
C O
CO
Maher
D G
DG
Piepgras
R D
RD
Brown
J A
JA
Friedman
B E
BE
Pollock
D000293:Adolescent; D000328:Adult; D001164:Arteriovenous Fistula / Q000175:diagnosis / Q000453:epidemiology; D020785:Central Nervous System Vascular Malformations / Q000175:diagnosis* / Q000453:epidemiology / Q000601:surgery; D002533:Cerebral Angiography; D002648:Child; D015897:Comorbidity; D006801:Humans; D020300:Intracranial Hemorrhages / Q000175:diagnosis* / Q000453:epidemiology; D008168:Lung / Q000098:blood supply / Q000473:pathology; D008171:Lung Diseases / Q000175:diagnosis / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000453:epidemiology; D018570:Risk Assessment; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000453:epidemiology; D014057:Tomography, X-Ray Computed