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Cerebral haemorrhage in hereditary haemorrhagic telangiectasia

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The classical triad of hereditary haemorrhagic telangiectasia (HHT, Osler-Rendu-Weber syndrome) consists of recurrent epistaxis, mucocutaneous telangiectasia, and a family history of the condition. It is an autosomal dominant condition with reported incidences in various countries of between 1 in 2500 and 1 in 8000. At least 30% of patients have pulmonary arteriovenous malformations giving rise to an increased risk of cerebral embolism and abscess. Cerebral arteriovenous malformations occur in some 10–14% of people with HHT. Presymptomatic screening for, and prophylactic treatment of, pulmonary arteriovenous malformations is widely accepted but the need for screening and prophylactic treatment is controversial in the case of cerebral arteriovenous malformations. An active approach (including neonatal screening in affected families) is more common in North America than in Europe. Now data from a large HHT clinic in London (

.) have been held to justify such an approach.

The retrospective study included 674 people in 98 families; 338 had definite HHT, and 317 likely or possible HHT. Nineteen individuals did not have HHT. In all 75 strokes were recorded; 35 from definite (28) or probable (7) cerebral haemorrhage, 22 from cerebral abscess, and 18 from other cerebral embolism (abscess and embolism presumed secondary to pulmonary arteriovenous malformation). The mean age at stroke was 41 years. Under the age of 45 years the risk of cerebral haemorrhage was 23 (men) and 6 (women) times that in the general population. The risk of cerebral haemorrhage in males with HHT and a cerebral arteriovenous malformation was calculated to be similar to that previously reported in people with cerebral arteriovenous malformations but without HHT (about 2% per year). In females the rate was less than half that in males.

The balance of risks and benefits from screening and prophylactic intervention for cerebral arteriovenous malformations in people with HHT seems far from clear but the authors of this report believe that it favours an active policy. They do not say at what age screening should be done.

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