The HHT (hereditary hemorrhagic telangiectasia) clinic draws on the skills and knowledge of UC San Diego physicians in a wide range of disciplines.
HHT is an inherited condition resulting in abnormal blood vessels in several organs. These abnormalities are called arteriovenous malformations (AVMs), and they occur when an artery and a vein connect directly to each other without intervening capillaries. Small AVMs are called telangiectasias and can be recognized on the skin as red spots that blanch (lose their color) with pressure.
The most common signs of HHT are:
- Spontaneous and frequent nosebleeds
- Presence of multiple telangiectases (red spots)
The telangiectases are usually located on the lips, face, tongue or hands, but they can appear in other places and are usually not troublesome. HHT can cause more serious, and even life-threatening problems in some people. Large AVMs often cause symptoms when they occur in the brain, lungs or the gastrointestinal tract. AVMs in the gastrointestinal system can cause internal bleeding, which commonly begins after age 50. These problems may be sudden and catastrophic.
Screening for HHT
Most of the serious complications of HHT can be prevented if potentially dangerous AVMs are detected and treated before they cause problems. Therefore, a comprehensive screening evaluation is recommended for anyone, at any age, who has been diagnosed with HHT, has signs and symptoms of HHT or has a close relative with HHT (a parent, child, brother or sister).
Screening may include any of the following procedures, depending on the patient's family and medical history:
- Physical examination
- Blood count
- Ultrasound to detect AVMs in the lungs (bubble echo)
- MRI of the brain
- CT scan of the lungs
Making an Appointment
We welcome patients from outside the local area and offer assistance with travel arrangements. Every effort will be made to coordinate visits to ensure that patients receive all the appropriate evaluations and treatments in the most efficient manner possible.