What is hereditary hemorrhagic telangiectasia?

Updated: Oct 06, 2020
  • Author: Irene S Pakos, DO; Chief Editor: Perumal Thiagarajan, MD  more...
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Answer

Answer

Hereditary hemorrhagic telangiectasia is an autosomal dominant inherited disease associated with various vascular malformations. [58] The disease is caused by defects of transmembrane protein components of the receptor complex for transforming growth factor-beta (TGF-beta). Vascular malformations can be found in the pulmonary, spinal, intracerebral, and hepatic circulation. They vary in size and may cause no symptoms, or they may be responsible for hemorrhage, thrombosis, cardiac insufficiency, portal hypertension, and hepatic encephalopathy secondary to shunting. Hepatic involvement can usually be confirmed with color duplex ultrasonography. Embolization or ligation of the malformations is the main therapeutic strategy.


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