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Am J Med Genet. 1989 Mar;32(3):291-7.

Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population.

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1
Service of Clinical Genetics, Hôtel-Dieu Hospital, Lyon, France.

Abstract

We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, selected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum penetrance for at least one manifestation was 97%. Epistaxis was reported by 96% of the patients and, in more than 50%, developed before age 20. Heavy and frequent bleeding occurred mainly in middle-aged patients. Telangiectasia was documented in 74% of cases, half of whom were younger than 30 years. The frequency of involvement of the hands and wrists was 41%, and for the face, 33%. Visceral involvement was present in 25% of patients, with affected lungs and CNS in the young and gastrointestinal tract and liver in older patients. Symptomatic urinary tract involvement was seen in only two/324 patients. Involvement of other internal sites was not observed.

PMID:
2729347
DOI:
10.1002/ajmg.1320320302
[Indexed for MEDLINE]

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