title: [Pulmonary involvement in Osler-Weber-Rendu syndrome].
abstract: Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a group of autosomal dominant diseases with variable penetration, characterized by vascular malformations. Recently hereditary hemorrhagic telangiectasia has been found to be a phenotypic expression of mutations in genes located on chromosomes 9 and 12, and possibly of other genes located on other chromosomes. We describe 2 patients with hereditary hemorrhagic telangiectasia and pulmonary involvement who presented with repeated complaints of dyspnea and cyanosis and were diagnosed as having long-standing asthma. Both were treated with therapeutic catheterization and embolization with good clinical outcomes.
authors.affiliation: Dept. of Medicine B, Schneider Children's Medical Center, Petah Tikva.
authors.forename: E
authors.initials: E
authors.lastname: Bron-Harlev
authors.forename: B
authors.initials: B
authors.lastname: Zeevi
authors.forename: B Z
authors.initials: BZ
authors.lastname: Garty
mesh_terms: D000328:Adult; D001249:Asthma / Q000150:complications / Q000503:physiopathology*; D002648:Child; D003490:Cyanosis / Q000209:etiology; D004417:Dyspnea / Q000209:etiology; D004621:Embolization, Therapeutic; D005260:Female; D006801:Humans; D012129:Respiratory Function Tests; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000503:physiopathology* / Q000628:therapy