유전출혈모세혈관확장증을 가진 가족 1예

• Published in: Tuberculosis and respiratory diseases Vol. 66; no. 4; pp. 314 - 318
• Main Authors: 김민, 송화영, 정훈, 박이내, 최상봉, 이현경, 이성순, 이영민, 김수영, 김용훈, 허진원, Kim, Min, Song, Hwa Young, Jeong, Hun, Park, I Nae, Choi, Sang Bong, Lee, Hyun Kyung, Lee, Sung-Soon, Lee, Young Min, Kim, Su Young, Kim, Yong Hoon, Huh, Jin Won
• Format: Journal Article
• Language: Korean
• Published: 대한결핵및호흡기학회 01.04.2009
• Subjects: 내과학; Arteriovenous malformations; Epistaxis; Embolization; Hereditary hemorrhagic telangiectasia
• ISSN: 1738-3536; 2005-6184

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. 저자들은 반복적인 코출혈이 있는 가족에서 폐동정맥기형이 있는 동생과 점막의 모세혈관확장증을 가진 형을 경험하고 희귀한 유전질환인 유전출혈모세혈관확장증의 가계도를 확인하였기에 문헌고찰과 함께 보고하는 바이다.