Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
✍ Scribed by Plauchu, Henri ;De Chadarévian, Jean-Pierre ;Bideau, Alain ;Robert, Jacques-Michel
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 818 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, se- lected 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 two1324 patients. Involvement of other internal sites was not observed.