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KMID : 0383820090660040314
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Tuberculosis and Respiratory Diseases
2009 Volume.66 No. 4 p.314 ~ p.318
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A Familial Case of Hereditary Hemorrhagic Telangiectasia
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Kim Min
Lee Sung-Soon
Lee Young-Min
Hur Jin-Won
Jung Hoon
Park I-Nae
Lee Hyun-Kung
Song Hwa-Young
Choi Sang-Bong
Kim Su-Young
Kim Yong-Hoon
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Abstract
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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.
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KEYWORD
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Hereditary hemorrhagic telangiectasia, Arteriovenous malformations, Epistaxis, Embolization
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