Thelansis

  Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a rare genetic disorder that causes abnormal blood vessel formation, leading to the development of arteriovenous malformations (AVMs). These AVMs are abnormal connections between arteries and veins that can form in various organs, including the lungs, liver, and brain. This can result in serious complications such as brain abscesses, stroke, and heart failure. Individuals with HHT often experience frequent and severe nosebleeds, visible blood vessels on the skin and mucous membranes, and gastrointestinal bleeding, which can lead to iron-deficiency anemia. HHT is inherited in an autosomal dominant pattern, with mutations in the ENG (endoglin) and ACVRL1 (ALK1) genes being the primary genetic causes. While there are currently no specific FDA-approved drugs for the treatment of HHT, treatment strategies focus on managing symptoms and complications, such as frequent nosebleeds and pulmonary AVM...