Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder of the vascular system. Found in 1 in 5,000 people, HHT can cause abnormal connections between arteries and veins that result in a range of health issues.
You have a 50% chance of inheriting the abnormal gene if you have a parent with HHT. You will need screenings and surveillance to diagnose and manage HHT appropriately.
Signs & Symptoms of HHT
Symptoms of HHT may include:
- Telangiectasia — Small red spots that look like spider veins due to abnormal blood vessels in the hands, face, lips and/or mouth. You may not require treatment, but laser therapy can help in bothersome cases.
- Nosebleeds — Non-surgical and surgical options can treat recurrent nosebleeds depending on the severity and frequency.
- Lung arteriovenous malformations (AVMs) — These abnormal connections impair the lung’s ability to filter clots and bacteria from the bloodstream, which may lead to serious complications, such as a stroke or brain infection. They can also cause abnormal blood oxygen levels, which can cause shortness of breath during exercise. An embolization procedure can treat lung AVMs.
- Brain AVMs — Up to 10% of people with HHT will have a brain AVM, which can cause potentially fatal bleeding in or around the brain. Radiosurgery, embolization, open surgery or a combination of these procedures can treat brain AVMs.
- Liver AVMs — Most liver AVMs don’t bleed, but in rare cases, they may be large enough to cause the heart to over-work, resulting in heart failure. Seek treatment only if liver AVMs cause a significant problem.
- Gastrointestinal bleeding — Bleeding in the digestive tract due to telangiectasias or AVMs is more common in younger patients, but it may result in life-threatening bleeding or anemia. Treatment depends on the severity of the bleeding and may include iron supplementation, medications, embolization and surgery.
Your HHT Team
At UVA, we can coordinate your care with a variety of specialties that manage HHT, including:
- Interventional radiologists
- Interventional neuroradiologists
- Genetic counselors
- Pulmonary hypertension specialists