Hereditary hemorrhagic telangiectasia

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Hereditary hemorrhagic telangiectasia, abbreviated HHT, is an inherited syndrome.[1] It is commonly due to a mutation in ENG (CD105).[2]

It may occur with Juvenile polyposis syndrome and be associated with a SMAD4 mutation.[3]


  • Clinical diagnosis.

Diagnostic criteria

Three of four required - Curaçao criteria:[4]

  1. Epistaxes.
  2. Telangiectasia
  3. Visceral lesions.
  4. Family history.


See also


  1. Online 'Mendelian Inheritance in Man' (OMIM) 187300
  2. Online 'Mendelian Inheritance in Man' (OMIM) 131195
  3. Online 'Mendelian Inheritance in Man' (OMIM) 175050
  4. Shovlin, CL.; Guttmacher, AE.; Buscarini, E.; Faughnan, ME.; Hyland, RH.; Westermann, CJ.; Kjeldsen, AD.; Plauchu, H. (Mar 2000). "Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).". Am J Med Genet 91 (1): 66-7. PMID 10751092.
  5. 5.0 5.1 Marchuk, DA.; Srinivasan, S.; Squire, TL.; Zawistowski, JS. (Apr 2003). "Vascular morphogenesis: tales of two syndromes.". Hum Mol Genet 12 Spec No 1: R97-112. PMID 12668602.