Journal
TUBERCULOSIS AND RESPIRATORY DISEASES
Volume 66, Issue 4, Pages 314-318Publisher
TAEHAN KYORHAEK HYOPHOE-KOREAN ACAD TUBERCULOSIS & RESPIRATORY DISEASES
DOI: 10.4046/trd.2009.66.4.314
Keywords
Hereditary hemorrhagic telangiectasia; Arteriovenous malformations; Epistaxis; Embolization
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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 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.
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