Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is an inherited disorder characterized by malformations of various blood vessels usually resulting in excessive bleeding and, in some cases, abnormalities affecting various organ systems of the body including the lungs, brain and liver.
The University of Pennsylvania has been designated as an HHT "Center of Excellence" by Cure HHT (formerly known as HHT Foundation International). Patients seen at the center receive comprehensive care for the diagnosis and management of HHT provided by a team of specialists who have special experience in HHT and its many clinical and diagnostic challenges.
The HHT Center at the University of Pennsylvania is one of two sites in the United States that provides testing of DNA from a blood specimen to identify the alteration in one of the three currently identified HHT genes (Endoglin, Alk-1 and SMAD4).
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