Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disorder. It is characterized by mucocutaneous telangiectases, recurrent epistaxis, gastrointestinal bleeding, and arteriovenous malformations (AVMs) in the lungs, brain, and liver. It is caused by mutations in genes involved in serine‐threonine kinase signaling, ENG (endoglin), ACVRL1 (activin receptor‐like kinase 1), and SMAD4. Each of these is associated with a distinctive sub‐phenotype. Apart from symptomatic treatment of associated hemorrhage, it is essential to screen for and treat pulmonary arteriovenous malformations to avoid paradoxical embolic complications, which are a major cause of morbidity and mortality.