Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder characterized by abnormal blood vessel formation. It is an inherited condition that affects the development of blood vessels throughout the body, leading to the formation of fragile, dilated blood vessels known as telangiectasias.
Individuals with HHT may experience various symptoms depending on the location and severity of blood vessel abnormalities. Common manifestations of the condition include recurrent nosebleeds (epistaxis), which may be severe and difficult to control, along with telangiectasias on the skin and mucous membranes of the mouth, nose, gastrointestinal tract, and other organs. These blood vessel abnormalities can sometimes cause enlargement or malformation of internal organs such as the lungs, liver, and brain, leading to potentially life-threatening complications.
HHT is an autosomal dominant disorder, meaning that an affected individual has a 50% chance of passing on the condition to each of their children. Mutations in several different genes have been identified as causes of HHT, with the majority of cases being linked to mutations in the ENG and ACVRL1 genes. Genetic testing can be conducted to confirm a diagnosis of HHT.
Although there is currently no cure for HHT, management of the disorder primarily focuses on alleviating symptoms and preventing complications. Treatment options may include medications to manage bleeding, surgical interventions to address severe nosebleeds or malformations in organs, and regular monitoring to detect and manage potential complications. Genetic counseling is also an important component of HHT care to guide individuals and families in understanding inheritance patterns and making informed reproductive decisions.
