title: Hereditary Hemorrhagic Telangiectasia.
abstract: Hereditary hemorrhagic telangiectasia (HHT) is an underrecognized and underdiagnosed autosomal-dominant angiodysplasia that has an estimated prevalence of 1 in 5000 individuals, with variable clinical presentations even within family members with identical mutations. The most common manifestations are telangiectasias of the skin and nasal mucosa. However, HHT can often be complicated by the presence of arteriovenous malformations and telangiectasias in the lungs, brain, gastrointestinal tract, and liver that are often silent and can lead to life-threatening complications of stroke and hemorrhage. This article reviews HHT for the pulmonologist, who is not uncommonly the first practitioner to encounter these patients.
authors: Department of Medicine, Respiratory Institute, Cleveland Clinic, A-90, 9500 Euclid Avenue, Cleveland, OH 44195, USA. Electronic address: parambj@ccf.org.
authors: Joseph G
authors: JG
authors: Parambil
mesh_terms: D001165:Arteriovenous Malformations / Q000209:etiology / Q000503:physiopathology*; D001927:Brain Diseases / Q000209:etiology / Q000503:physiopathology*; D005190:Family; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000503:physiopathology*; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000209:etiology / Q000503:physiopathology*; D020300:Intracranial Hemorrhages / Q000209:etiology; D008107:Liver Diseases / Q000209:etiology / Q000503:physiopathology*; D008171:Lung Diseases / Q000209:etiology / Q000503:physiopathology*; D009154:Mutation; D020521:Stroke / Q000209:etiology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000503:physiopathology*
keywords: Arteriovenous malformation; Hereditary hemorrhagic telangiectasia; Telangiectasia