Hereditary Hemorrhagic Telangiectasia

📋Overview

Hereditary Hemorrhagic Telangiectasia, also known as Osler-Weber-Rendu syndrome, is a genetic condition characterized by the development of abnormal blood vessels. These abnormalities, which include telangiectasias and arteriovenous malformations, occur when arteries connect directly to veins without the normal intervening capillary bed.

The disorder is inherited in an autosomal dominant pattern and results from mutations in genes that regulate blood vessel formation. These vascular changes can affect various parts of the body, including the skin and internal organs, potentially leading to blood shunting and fragile vessels.