Tuberculosis and Respiratory Diseases

The Korean Academy of Tuberculosis and Respiratory Diseases (대한결핵및호흡기학회)
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A Familial Case of Hereditary Hemorrhagic Telangiectasia

유전출혈모세혈관확장증을 가진 가족 1예

  • 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)
  • 김민 (인제대학교 의과대학 내과학교실) ;
  • 송화영 (인제대학교 의과대학 내과학교실) ;
  • 정훈 (인제대학교 의과대학 내과학교실) ;
  • 박이내 (인제대학교 의과대학 내과학교실) ;
  • 최상봉 (인제대학교 의과대학 내과학교실) ;
  • 이현경 (인제대학교 의과대학 내과학교실) ;
  • 이성순 (인제대학교 의과대학 내과학교실) ;
  • 이영민 (인제대학교 의과대학 내과학교실) ;
  • 김수영 (인제대학교 의과대학 영상의학교실) ;
  • 김용훈 (인제대학교 의과대학 영상의학교실) ;
  • 허진원 (인제대학교 의과대학 내과학교실)
  • Received : 2009.01.31
  • Accepted : 2009.03.12
  • Published : 2009.04.30
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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.

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

Keywords

References

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