Hereditary hemorrhagic telangiectasia

February 1, 2023

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic condition that affects the blood vessels and causes small, abnormal blood vessels to form in the skin, mucous membranes, and organs. These blood vessels are easily broken and can cause bleeding, leading to anemia, fatigue, and other symptoms. The most common sites of bleeding are the nose and the gastrointestinal tract. HHT can also cause the formation of larger, abnormal blood vessels in the lungs, liver, and brain, which can increase the risk of serious complications, such as stroke and liver failure. HHT is caused by mutations in one of several genes that regulate the formation and maintenance of blood vessels. The diagnosis of HHT is usually made through a combination of genetic testing, medical history, and physical exam. Treatment may include regular monitoring, medication to control symptoms, and management of complications as they arise. Early diagnosis and management are important to prevent or minimize the effects of HHT.

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