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Kim, Song, Jeong, Park, Choi, Lee, Lee, Lee, Kim, Kim, and Huh: A Familial Case of Hereditary Hemorrhagic Telangiectasia
Case Report
Tuberculosis and Respiratory Diseases

Tuberculosis and Respiratory Diseases 2009; 66(4): 314-318.

Published online: 30 April 2009

DOI: https://doi.org/10.4046/trd.2009.66.4.314

A Familial Case of Hereditary Hemorrhagic Telangiectasia

Min Kim, M.D.1, Hwa Young Song, M.D.1, Hun Jeong, M.D.1, I Nae Park, M.D.1, Sang Bong Choi, M.D.1, Hyun Kyung Lee, M.D.1, Sung-Soon Lee, M.D.1, Young Min Lee, M.D.1, Su Young Kim, M.D.2, Yong Hoon Kim, M.D.2, Jin Won Huh, M.D.1

1Department of Internal Medicine, Inje University College of Medicine, Goyang, Korea.

2Department of Radiology, Inje University College of Medicine, Goyang, Korea.

Address for correspondence: Jin Won Huh, M.D. Division of Pulmonary and Critical Care Medicine, Ilsan Paik Hospital, College of Medicine, Inje University, 2240, Daehwa-dong, Ilsanseo-gu, Goyang 411-706, Korea. Phone: 82-31-910-7544, Fax: 82-31-910-7219, jwhuh@paik.ac.kr

Received 31 January 2009       Accepted 12 March 2009

Copyright©2009. The Korean Academy of Tuberculosis and Respiratory Diseases. All rights reserved.

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.

Keywords: Hereditary hemorrhagic telangiectasia, Arteriovenous malformations, Epistaxis, Embolization

Figures and Tables

Figure 1
The genogram shows relative with recurrent epistaxis. These cases' sister (*) with pulmonary arteriovenous malformations was treated with lobectomy and embolization.
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Figure 2
Finger tips show sparse telangiectasia (A) and a computed tomographic scan (B) shows an arteriovenous malformation (white arrow).
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Figure 3
Pulmonary angiograms reveal multiple pulmonary arteriovenous malformations in both lungs.
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Figure 4
Nasal endoscopies show epistaxis and multiple telangiectasis on both nasal cavities.
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Figure 5
Bronchoscopy reveals multiple telangiectasis on tongue and bronchus.
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