Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu disease, is a rare autosomal dominant genetic disorder that causes abnormal blood vessel formation in the skin, mucous membranes and often in internal organs. A single mutated gene copy inherited from either parent can cause the condition, which affects roughly one in 5,000 to 8,000 people in North America. Frequent nosebleeds affect 90 to 95 percent of patients and typically begin in childhood, alongside visible lesions on the lips, nose, fingers and face, gastrointestinal bleeding that can cause iron-deficiency anemia, and arteriovenous malformations in the lungs, liver or brain that can lead to stroke, brain abscess or heart failure. The condition can be treated symptomatically, but there is no cure for the underlying abnormal vessel formation.
Facts
Classification
ICD-10 ChapterIX: Diseases of the Circulatory System 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. National Library of Medicine: MeSH Descriptor Data: Telangiectasia, Hereditary Hemorrhagic
National Library of MedicineMeSH tree number C14.907.823.780
An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding.
MeSH tree number C15.378.463.515.900
An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding.
View the Source 2. World Health Organization: ICD-10 Version:2019 - I78.0
World Health OrganizationICD-10 2019 category I78.0, Chapter IXQuote, ICD-10 2019 category I78.0, Chapter IX
I78.0 Hereditary haemorrhagic telangiectasia
3. Hereditary hemorrhagic telangiectasia (Wikipedia)
lead sentence 1
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
Lead: disease category
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
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