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The Gachon HHT Center, founded in the Gachon University of Medicine and Science Lee Gil Ya Cancer and Diabetes Center in 2008 is the first hereditary hemorrhagic telangiectasia (HHT) specialized center in South Korea.

  Hereditary Haemorrhagic Telangiectasia (HHT)
HHT HHT symptoms
HHT-causing genes
HHT, also known as Osler-Weber-Rendu Syndrome, is an autosomal-dominant vascular disorder that affects approximately 1 in 5,000 people. Normally, arteries and veins are connected by very small blood vessels called capillaries. However, some arteries and veins in HHT patients are connected directly to each other without intervening capillaries. These connections are called 쁝rteriovenous malformations (AVMs) or 쁳elangiectases if it happens in small blood vessels.
One of the most common symptoms of HHT is nose bleeding (epistaxis) resulting from telangiectases in the mucous membrane of the nose. Telangiectases usually occur at the skin or the mucosal layers. AVMs occur in almost any organ in the body including the lungs, brain, gastrointestinal tract, and liver. Bleeding from telangiectases, such as severe nose bleeding can be temporally treated by laser coagulation therapy, which induces photocoagulation around the margins of each telangiectasia. AVMs in internal organs can be treated by embolization, which blocks off an artery using a coil or a balloon. Unfortunately, prevention mechanisms of HHT have yet to be developed.
HHT is a genetic disorder and it is generally caused by heterozygous mutations in the ENDOGLIN (ENG) gene on human chromosome 9 or in the ACTIVIN-LIKE KINASE 1 (ALK1) gene on chromosome 12.
Heterozygous mutations in the SMAD4 gene were also found in patients with HHT and juvenile polyps combined syndrome. All the genes are involved in the signal transduction pathway of transforming growth factor-b (TGF- b) superfamily.
  Animal Models
  Copyright 2008 Lee Gil Ya Cancer and Diabetes Institute. All rights Reserved.
Address. 7-45, Songdo-dong, Yeonsu-ku, Incheon City, Korea 406-840 Tel. 032-899-6030