Hereditary hemorrhagic telangiectasia (HHT)

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Hereditary hemorrhagic telangiectasia (HHT)

Hereditary hemorrhagic telangiectasia, or HHT, is a rare genetic (runs in families) disorder that affects the blood vessels. It often causes internal bleeding and makes it harder for oxygen to get to the body’s tissues. HHT may cause blood vessels to form without capillaries, the tiny vessels between arteries and veins, so blood passes directly from arteries to veins. This is a condition known as arteriovenous malformation (AVM), and it commonly occurs in the lungs, where it is called pulmonary AVM. HHT also can lead to a condition called telangiectasia (spider veins), in which enlarged or broken blood vessels in the skin appear as delicate red or purplish spots on the legs, hands, fingertips, face, lips, lining of the mouth, or nose.

HHT can affect people of all ages, genders, and racial and ethnic groups, and some of the problems it creates can be serious or even life-threatening. The symptoms may not be obvious, so genetic testing is needed to accurately diagnose HHT. Nosebleeds are the most common symptom, and bleeding in the stomach or intestines is another possible sign of HHT. There is no cure, but effective treatments are available. Therapy for HHT usually involves treating the symptoms, including controlling bleeding and anemia (low levels of red blood cells in the blood) and preventing complications from abnormal artery-vein connections in the brain, spine, lungs, and other areas of the body.

The UAB Division of Vascular and Neuro-Interventional Radiology operates an HHT clinic at The Kirklin Clinic of UAB Hospital. It provides complete care from physicians in many medical specialties who are experts in HHT, and it serves patients and their families from childhood through adulthood. UAB holds the Center of Excellence designation from the Cure HHT Foundation, which provides access to important resources such as participation in HHT clinical research trials, a network for discussing complex HHT cases with expert physicians around the world, and outreach opportunities.

The clinic’s specialists include an interventional neuroradiologist who helps manage HHT-related problems that may develop in the brain and spine, such as AVM. Other specialists manage pulmonary AVM, nosebleeds, heart problems, bleeding from the gut, and anemia.

To make an appointment with the HHT clinic, please contact Clinic Care Coordinator Josie Harris, BSN, RN, at 205-996-9647 or email jcrespo@uabmc.edu.