Hereditary Hemorrhagic Telangiectasia

Abstract

A 47-year-old woman sought medical assistance because of multiple symptomatic telangiectasias of her tongue, soft palate, gumline, lips, fingertips, and toes. Since the age of 15 years, she had required numerous electrocauterizations to control bleeding, primarily for daily bouts of epistaxis not controlled by nasal packing or nasal septoplasty. Repeated bleeding from lesions of her lip, hand, and foot necessitated frequent laser treatments. She had never experienced hemoptysis and had no family history of telangiectasia or bleeding. Physical examination revealed multiple telangiectasias of the feet, fingertips, and tongue. Computed tomography of the chest with 4-dimensional reconstruction revealed a large pulmonary arteriovenous malformation (AVM) in the left lower lobe. Coil embolization of the afferent vessel to the AVM was performed. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) is an autosomal dominant condition characterized by telangiectasias and bleeding. Repeated epistaxis is present in more than half the patients with this disorder.1Swanson KL Prakash UBS Stanson AW Pulmonary arteriovenous fistulas: Mayo Clinic experience, 1982-1997.Mayo Clin Proc. 1999; 74: 671-680Abstract Full Text Full Text PDF PubMed Scopus (212) Google Scholar Spontaneous and recurrent epistaxis, mucocutaneous telangiectasias, the presence of visceral AVMs, and a family history of hereditary hemorrhagic telangiectasia establish the diagnosis, although only 3 of these criteria are required for a definite diagnosis. Treatment consists of prevention and control of hemorrhage from telangiectasia and AVMs. Because pulmonary AVMs with afferent vessel diameters of 3 mm or larger are associated with serious neurologic complications due to paradoxical embolization, they should be treated.2Gossage JR Kanj G Pulmonary arteriovenous malformations: a state of the art review.Am J Respir Crit Care Med. 1998; 158: 643-661Crossref PubMed Scopus (491) Google Scholar Coil embolization is most commonly used, as in our patient. Complex pulmonary AVMs may require surgical resection.