A Familial Case of Hereditary Hemorrhagic Telangiectasia.

Kim, Min; Song, Hwa Young; Choi, Jae Ki; Jeong, Hun; Park, I Nae; Choi, Sang Bong; Lee, Hyun Kyung; Lee, Sung Soon; Lee, Young Min; Kim, Su Young; Kim, Young Hoon; Huh, Jin Won

doi:2009.66.4.314

Tuberc Respir Dis > Volume 66(4); 2009 > Article

Case Report

Tuberculosis and Respiratory Diseases 2009;66(4):314-318.
DOI: https://doi.org/10.4046/trd.2009.66.4.314 Published online April 1, 2009.

A Familial Case of Hereditary Hemorrhagic Telangiectasia.

Min Kim, Hwa Young Song, Jae Ki Choi, Hun Jeong, I Nae Park, Sang Bong Choi, Hyun Kyung Lee, Sung Soon Lee, Young Min Lee, Su Young Kim, Young Hoon Kim, Jin Won Huh

¹Department of Internal Medicine, Inje University College of Medicine, Goyang, Korea. jwhuh@paik.ac.kr
²Department of Radiology, Inje University College of Medicine, Goyang, Korea.

Abstract

Hereditary hemorrhagic telangiectasia (HHT, also called Osler-Weber-Rendu Disease) is a rare systemic fibrovascular dysplasia characterized by recurrent epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVMs). HHT is an autosomal dominant disease with a prevalence of 1 in 5,000~8,000. Recurrent epistaxis is often the first and most common manifestation, and about 30% of patients reveal pulmonary AVM. Presently, we report a familial case of HHT. A 61-year-old male with asymptomatic multiple pulmonary AVMs was successfully treated with embolization. His older brother who presented with recurrent epistaxis and multiple telangiectasias was treated with laser ablation. Their pedigree revealed a family history of recurrent epistaxis.

Key Words: Hereditary hemorrhagic telangiectasia, Arteriovenous malformations, Epistaxis, Embolization