Bron-Harlev E, Zeevi B, Garty B Z
Dept. of Medicine B, Schneider Children's Medical Center, Petah Tikva.
Harefuah. 2000 Mar 1;138(5):362-5, 423.
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.
