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http://dx.doi.org/10.4046/trd.2009.66.4.314

A Familial Case of Hereditary Hemorrhagic Telangiectasia  

Kim, Min (Department of Internal Medicine, Inje University College of Medicine)
Song, Hwa Young (Department of Internal Medicine, Inje University College of Medicine)
Jeong, Hun (Department of Internal Medicine, Inje University College of Medicine)
Park, I Nae (Department of Internal Medicine, Inje University College of Medicine)
Choi, Sang Bong (Department of Internal Medicine, Inje University College of Medicine)
Lee, Hyun Kyung (Department of Internal Medicine, Inje University College of Medicine)
Lee, Sung-Soon (Department of Internal Medicine, Inje University College of Medicine)
Lee, Young Min (Department of Internal Medicine, Inje University College of Medicine)
Kim, Su Young (Department of Internal Radiology, Inje University College of Medicine)
Kim, Yong Hoon (Department of Internal Radiology, Inje University College of Medicine)
Huh, Jin Won (Department of Internal Medicine, Inje University College of Medicine)
Publication Information
Tuberculosis and Respiratory Diseases / v.66, no.4, 2009 , pp. 314-318 More about this Journal
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;
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