What is Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder characterized by abnormal blood vessel formation. It is also known as Osler-Weber-Rendu syndrome. HHT affects multiple organs, particularly the nose, skin, lungs, and digestive tract.

Individuals with HHT may develop small, fragile blood vessels called telangiectasias, which can rupture and cause recurrent nosebleeds (epistaxis). These nosebleeds can be severe and difficult to control. Telangiectasias can also appear on the skin, lips, and fingertips.

Another hallmark of HHT is arteriovenous malformations (AVMs), which are abnormal connections between arteries and veins. AVMs can occur in various organs, including the lungs, liver, and brain. If left untreated, AVMs can lead to serious complications such as stroke, brain abscess, or organ failure.

HHT is an inherited condition, typically passed down from a parent who carries the mutated gene. It follows an autosomal dominant pattern of inheritance, meaning that each child of an affected individual has a 50% chance of inheriting the condition.

While there is no cure for HHT, management focuses on controlling symptoms and preventing complications. Treatment options include medications to reduce bleeding, laser therapy for telangiectasias, and embolization or surgery for AVMs.