Abstract

Hereditary hemorrhagic telengiectasia (Osler-Weber-Rendu disease) is a relatively rare, inherited disease with autosomal dominant transmission. It is characterized by multiple arteriovenous malformations mostly situated in skin and mucous membranes. Accordingly, epistaxis is highly characteristic of the disease. A 37-year-old man was hospitalized for malaise, abdominal pain, and a homogenous density of 1.5 cm. in diameter at right-upper-zone on chest X-ray. Examination revealed multiple telangiectasias of the tongue, lips, over the feet and tibia. History of frequent epistaxis was present for several years. A history of frequent epistaxis and multiple telangiectasias on the tongue and lips were reported in thirteen persons in his family, including his father, his sister and his 11 years-old son. Bronchoscopy revealed nonbleeding telangiectasias in nasopharynx, larynx, trachea and bronchial tree. Computed tomography of thorax showed a peripheral lesion (2x2 cm) which was interpreted as a pulmonary arteriovenous malformation (PAVM) in the right upper lobe. Gastrointestinal telangiectasias were not present in endoscopy. Doppler ultrasound showed dilatation of hepatic artery. Angiography of the right main pulmonary artery demonstrated the presence of peripheral PAVM in the right upper lobe. Right thoracotomy with wedge resection of right upper lobe was performed to remove PAVM. This case was discussed on highlights of recent literature due to its rarity.