Hereditary Hemorrhagic Telangiectasia
| Overview |
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- 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 |
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- Rarely, the telangiactasias can rupture, causing hematuria, GI bleeding, or epistaxis.
| Genetics |
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- This disease is inherited in an autosomal dominant fashion. Incidence is highly rare although there is a higher risk in the Mormon community.