Hereditary Hemorrhagic Telangiectasia

Yale New Haven Hospital Interventional Radiology collaborates with Yale HHT and Vascular Malformation Program to treat Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rend syndrome, a rare genetic condition characterized by abnormal blood vessel formation and resulting in telangiectasia and arteriovenous malformations (AVMs).

AVMs are blood vessel malformations involving arteries and veins, which lack the capillaries that normally connect these vessels. They can occur in the lungs, liver, and/or brain of people with this condition. Telangiectasia, which are small AVMs, can develop on the skin, GI tract, and inside the nose. HHT symptoms are age-dependent and vary. They include recurrent nosebleeds, anemia, stroke, brain abscess, hemorrhage, gastrointestinal bleeding, and heart failure.

HHT diagnosis can be made based on established clinical criteria or via genetic testing. The multidisciplinary program provides genetic counseling and testing, evaluation and screening for AVM and surveillance of patients with gastrointestinal bleeding and liver, pulmonary and brain malformations associated with HHT. Treatment is based on one’s symptoms and provided by a multidisciplinary team.

The Yale program, which has evaluated more than 3,500 patients with HHT, is recognized as a North American HHT Center of Excellence by Cure HHT, the non-profit HHT patient and family advocacy foundation. The Yale program’s principals of care are the model for numerous HHT Centers of Excellence worldwide.

HHT is among conditions cared for by the Yale program that focuses on vascular malformations of the brain, nose, lung, GI tract and extremities that may occur spontaneously or, like HHT, as part of rare genetic conditions.