A Familial Case of Hereditary Hemorrhagic Telangiectasia

被引：2

作者：

Kim, Min ^{[1
]}

Song, Hwa Young ^{[1
]}

Jeong, Hun ^{[1
]}

Park, I. Nae ^{[1
]}

Choi, Sang Bong ^{[1
]}

Lee, Hyun Kyung ^{[1
]}

Lee, Sung-Soon ^{[1
]}

Lee, Young Min ^{[1
]}

Kim, Su Young ^{[2
]}

Kim, Yong Hoon ^{[2
]}

Huh, Jin Won ^{[1
]}

机构：

[1] Inje Univ, Coll Med, Dept Internal Med, Goyang, South Korea

[2] Inje Univ, Coll Med, Dept Radiol, Goyang, South Korea

来源：

TUBERCULOSIS AND RESPIRATORY DISEASES | 2009年 / 66卷 / 04期

关键词：

Hereditary hemorrhagic telangiectasia; Arteriovenous malformations; Epistaxis; Embolization;

D O I：

10.4046/trd.2009.66.4.314

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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 similar to 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.

引用

页码：314 / 318

页数：5

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