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Journal of Genetic Disorders and Genetic Medicine

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Author(s): Kayon Donaldson*

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler Webber Rendu Syndrome, is an autosomal dominant disorder in which blood vesicles do not develop properly, causing Arteriovenous malformations (AVM's). HHT was named after three physicians William Osler, Henri Jules Marie Rendu, and Frederick Parkes Webber, who described the disease in the late 1800s. AVM's and telangiectasias are the main characteristics of the disorder. In AVM, capillaries do not form between veins and arteries; pressure then builds in these areas, causing them to become fragile and burst, which can lead to life-threatening hemorrhage. Telangiectasias are vascular lesions on the mucocutaneous surface, skin, gastrointestinal mucosa, or upper aerodigestive tract, that can rupture and bleed. AVMs can develop anywhere in the body and are more serious when set in the brain, lungs, or GI tract. Ninety percent of patients with HHT suffer from recurrent epistaxis and have iron deficiency anemia (Kritharis et. al., 2018). Genetic testing can identify genes affected leading to better patient management.


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Citations : 135

Journal of Genetic Disorders and Genetic Medicine received 135 citations as per Google Scholar report

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