Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder characterized by abnormal blood vessel formation. It affects multiple organs, particularly the nose, skin, lungs, and gastrointestinal tract.
The prevalence of HHT varies across different populations. In general, it is estimated to affect approximately 1 in 5,000 to 1 in 8,000 individuals worldwide. However, due to underdiagnosis and variable expressivity, the true prevalence may be higher.
HHT is an autosomal dominant disorder, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. It is caused by mutations in several genes, including ENG and ACVRL1, which are involved in the formation and maintenance of blood vessels.
Common symptoms of HHT include recurrent nosebleeds, telangiectasias (small, dilated blood vessels) on the skin and mucous membranes, and arteriovenous malformations (AVMs) in various organs. These AVMs can lead to serious complications such as stroke, brain abscess, and gastrointestinal bleeding.
Early diagnosis and appropriate management are crucial in HHT to prevent complications and improve quality of life. Treatment options include medication to control bleeding, embolization or surgery to treat AVMs, and regular monitoring of affected individuals and their at-risk family members.