Hereditary Hemorrhagic Telangiectasia - HHT

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by multiple telangiectases in the skin and mucous membranes. Arteriovenous malformations (AVMs) also frequently occur in the lungs, liver, gastrointestinal tract, and brain, and may lead to serious complications. The most common symptom of HHT is recurrent nosebleeds (epistaxis). Pathogenic variants of the ACVRL1 (also known as ALK1) and ENG genes are the most common causes of HHT. Genetic testing is used to confirm a clinical diagnosis or to establish a diagnosis in symptomatic individuals, and to identify disease in family members of individuals with a known pathogenic variant.  

Tabs Content
Content Review: 
September 2019

Last Update: September 2019