Difference between revisions of "Hereditary hemorrhagic telangiectasia"

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It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM|175050}}</ref>
It may occur with [[Juvenile polyposis syndrome]] and be associated with a SMAD4 mutation.<ref>{{OMIM|175050}}</ref>


==General (HHT1)==
==General==
*Due to ENG1 mutation.
*Clinical diagnosis.
 
===Diagnostic criteria===
Three of four required - Curaçao criteria:<ref>{{Cite journal  | last1 = Shovlin | first1 = CL. | last2 = Guttmacher | first2 = AE. | last3 = Buscarini | first3 = E. | last4 = Faughnan | first4 = ME. | last5 = Hyland | first5 = RH. | last6 = Westermann | first6 = CJ. | last7 = Kjeldsen | first7 = AD. | last8 = Plauchu | first8 = H. | title = Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). | journal = Am J Med Genet | volume = 91 | issue = 1 | pages = 66-7 | month = Mar | year = 2000 | doi =  | PMID = 10751092 }}</ref>
#Epistaxes.
#Telangiectasia
#Visceral lesions.
#Family history.
 
===HHT1===
*Due to ''ENG1'' mutation.
*Autosomal dominant inheritance.<ref name=pmid12668602>{{Cite journal  | last1 = Marchuk | first1 = DA. | last2 = Srinivasan | first2 = S. | last3 = Squire | first3 = TL. | last4 = Zawistowski | first4 = JS. | title = Vascular morphogenesis: tales of two syndromes. | journal = Hum Mol Genet | volume = 12 Spec No 1 | issue =  | pages = R97-112 | month = Apr | year = 2003 | doi =  | PMID = 12668602 }}</ref>  
*Autosomal dominant inheritance.<ref name=pmid12668602>{{Cite journal  | last1 = Marchuk | first1 = DA. | last2 = Srinivasan | first2 = S. | last3 = Squire | first3 = TL. | last4 = Zawistowski | first4 = JS. | title = Vascular morphogenesis: tales of two syndromes. | journal = Hum Mol Genet | volume = 12 Spec No 1 | issue =  | pages = R97-112 | month = Apr | year = 2003 | doi =  | PMID = 12668602 }}</ref>  
*[[Arteriovenous malformation]] = hallmark lesion.<ref name=pmid12668602/>  
*[[Arteriovenous malformation]] = hallmark lesion.<ref name=pmid12668602/>  

Latest revision as of 14:26, 3 December 2011

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

  • Clinical diagnosis.

Diagnostic criteria

Three of four required - Curaçao criteria:[4]

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

HHT1

See also

References

  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.