Hereditary hemorrhagic telangiectasia
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]
General (HHT1)
- Due to ENG1 mutation.
- Autosomal dominant inheritance.[4]
- Arteriovenous malformation = hallmark lesion.[4]
Diagnostic criteria
Three of four required - Curaçao criteria:[5]
- Epistaxes.
- Telangiectasia
- Visceral lesions.
- Family history.
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 187300
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 131195
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 175050
- ↑ 4.0 4.1 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.
- ↑ 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.