title: Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population.
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.
authors.affiliation: Service of Clinical Genetics, Hôtel-Dieu Hospital, Lyon, France.
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
authors.forename: J P
authors.initials: JP
authors.lastname: de Chadarévian
authors.forename: A
authors.initials: A
authors.lastname: Bideau
authors.forename: J M
authors.initials: JM
authors.lastname: Robert
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D004812:Epidemiologic Methods; D004844:Epistaxis / Q000209:etiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009928:Organ Specificity; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*