Hereditary Hemorrhagic Telangiectasia
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Synonyms of Hereditary Hemorrhagic Telangiectasia
- Osler-Weber Rendu Syndrome
- Rendu-Osler-Weber Syndrome
- Hereditary Hemorrhagic Telangiectasia Type I
- Hereditary Hemorrhagic Telangiectasia Type II
- Hereditary Hemorrhagic Telangiectasia Type III
- Hereditary Hemorrhagic Telangiectasia Type V
- Hereditary Hemorrhagic Telangiectasis Type IV
Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu syndrome) is an inherited disorder characterized by malformations of various blood vessels (vascular dysplasia), usually resulting in bleeding (hemorrhaging). Chronic nosebleeds are often the first sign and malformation of various blood vessels may result in abnormalities affecting the lungs, brain, spinal cord, and liver. A variety of treatments exist for the various features of HHT to improve quality of life and prevent life-threatening complications Individuals with HHT have a near-normal life expectancy. HHT is inherited as an autosomal dominant trait.
HHT was first described by Henry Gawen Sutton in 1864. With similar symptoms to hemophilia the two diseases were differentiated by Henri Jules Louis Marie Rendu in 1896. William Osler connected the disease’s presence in families to establish it as an inherited disorder. In 1907 Frederick Parkes Weber continued the characterization of the disease, writing a report on a series of cases. In 1909, the name "hereditary hemorrhagic telangiectasia" was coined, but alternate names based on the scientists who first characterized it have also been commonly used. Since its first identification, HHT has been an underdiagnosed disease, affecting more than a million people worldwide.
Organizations related to Hereditary Hemorrhagic Telangiectasia
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