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Hereditary hemorrhagic telangiectasia with juvenile polyposis--coincidence or linked autosomal dominant inheritance?

Ballauff, A.; Koletzko, S.

Zeitschrift für Gastroenterologie 37(5): 385-388

1999

ISSN/ISBN: 0044-2771
PMID: 10413846
Document Number: 507544
Hereditary hemorrhagic telangiectasia (HHT) and familial juvenile polyposis (EJP) are two rare autosomal dominant disorders, Genetic heterogeneity has been shown for HHT and is likely for FJP as well. This paper describes the coexistence of both diseases in a girl and her father in addition to twelve members of five families and two sporadic cases reported in the literature. This implies a new phenotype which may be important in elucidating the underlying genetics in HHT and FJP. Clinical diagnosis of one disease should induce screening for symptoms of the other.

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