At UC San Diego Health, you'll find experts who can diagnose and help you proactively manage hereditary hemorrhagic telangiectasia (HHT).
Led by Dr. Michael Taddonio, our team includes medical specialists who are knowledgeable about the unique symptoms and treatment options for the disease.
What is Hereditary Hemorrhagic Telangiectasia?
HHT is an inherited condition that causes malformed blood vessels and pulmonary arteriovenous malformations (PAVM). The most common locations affected are the nose, lungs, brain and liver.
When to See a Doctor
An estimated 90 percent of those with
HHT go undiagnosed, so it's important that you recognize common signs and symptoms of the disorder:
- Nosebleeds (epistaxis) -- the most common symptom: most people with HHT will have recurrent nosebleeds by their 20s
- Cutaneous telangiectasia – red or purple spots on the face or hands
- Shortness of breath
- Exercise intolerance or fatigue
- Migraine headaches
- Abdominal pain
- Leg swelling
- Artery malformations, which may affect pulmonary (lung) or cerebral (brain) circulation
Screening for HHT
If you have signs and symptoms of HHT, we strongly recommend that you undergo a thorough screening and consultation to make sure your condition is correctly diagnosed and treated. Based on your health history, your screening may include:
- Physical exam
- Blood count
- Chest X-ray
- Contrast echocardiogram (bubble echo study)
- CT scan
- Colonoscopy or upper endoscopy
- Genetic testing
Treatment for HHT
We offer comprehensive treatment options to address all the different parts of the body that the disorder may affect, including:
- Treatment for nosebleeds with over the counter sprays / gels, moisture and humidification, hormone therapy, sclerotherapy and coblation
- Laser treatment of telangiectasias on the skin of the hands, face and mouth
- Endovascular embolization for arteriovenous malformations (AVMs) of the lungs or brain
- Radiation and surgical removal of AVMs of the brain
- A range of options for treating gastrointestinal bleeding, including laser photocoagulation, thermal therapy, and intravenous and oral medications
- Intravenous blood vessel inhibitor drugs and adjunct therapeutic management for AVMs of the liver