Hereditary Hemorrhagic Telangiectasia

Overview
  • Hereditary Hemorrhagic Telangiectasia is a genetic disease characterized by a wide distribution of telangiectasias in many locations such as the skin, oral mucosa, GI mucosa, and the urinary tract. Telangiactasias are non-neoplastic, localized dilations of pre-existing vessels that produce small, focal red lesions. In the case of Hereditary Hemorrhagic Telangiectasia, the lesions specifically involve dilations of capillaries and venules.
Clinical Consequences
  • Rarely, the telangiactasias can rupture, causing hematuria, GI bleeding, or epistaxis.
Genetics
  • This disease is inherited in an autosomal dominant fashion. Incidence is highly rare although there is a higher risk in the Mormon community.