Vascular Disease Patient Information Page: Hereditary hemorrhagic telangiectasia (HHT).

This article provides an overview of hereditary hemorrhagic telangiectasia (HHT), a genetic disorder affecting blood vessel formation that leads to abnormal vessels called telangiectasias and arteriovenous malformations (AVMs). HHT is inherited in an autosomal dominant pattern, primarily caused by mutations in the ENG, ACVRL1, or SMAD4 genes, and affects about one in 5,000 people worldwide regardless of race or ethnicity. Common symptoms include recurrent nosebleeds, skin telangiectasias, anemia from bleeding, and potentially serious complications from AVMs in organs such as the brain, lungs, and liver. Diagnosis relies on clinical criteria known as the Curaçao criteria or genetic testing, and management involves regular screening for AVMs, treatment of bleeding and anemia, and specialized care at HHT Centers of Excellence to improve quality of life and prevent complications. [Extracted from the article]