User:Mr. Ibrahem/Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that leads to abnormal blood vessels in the skin and mucous membranes. This results in multiple telangiectasias; which, when they bleed may result in nosebleeds or digestive tract bleeding and iron deficiency anemia. Onset of symptoms is often around the age of 12. Other complications may include arteriovenous malformations (AVMs) of the lungs, liver, or brain.

HHT is transmitted in an autosomal dominant fashion. The underlying mechanism involves disruption of the TGF beta signaling pathway leading to fragile blood vessels. Diagnosis may be confirmed in those with recurrent nosebleeds, telangiectasias, and an affected first-degree relative or by genetic testing. Screening for AVMs with medical imaging is recommended in those affected.

Nosebleeds may be treated with packing. Surgery or other targeted interventions may be required to treat AVMs of the lungs, brain, liver, or digestive tract. Chronic bleeding often requires iron supplements and sometimes blood transfusions. Life expectancy is almost normal.

HHT occurs in about 1 in 5,000–8,000 people. Males and females are affected with similar frequency. Henry Gawen Sutton first identified the condition in 1864. The disease was subsequently named for Sir William Osler, Henri Jules Louis Marie Rendu, and Frederick Parkes Weber, who described it in the late 19th and early 20th centuries.