Have questions? Visit https://www.reddit.com/r/SNPedia

Hereditary hemorrhagic telangiectasia

From SNPedia

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.

It may lead to recurrent nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT occurs in one in 5,000 people.Wikipedia

Recurrent nosebleeds, and possibly lethal effects. Video description here

The following types of HHT have been defined, based on mutations in the genes as shown:

  • Type 1: ENG gene; the most common type of HHT
  • Type 2: ACVRL1
  • Type 3: linked to ch 5q31-32
  • Type 4: linked to ch 7p14
  • Type 5: GDF2