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Difference between revisions of "Hereditary hemorrhagic telangiectasia"
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Hereditary hemorrhagic telangiectasia (view source)
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'''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome | '''Hereditary hemorrhagic telangiectasia''', abbreviated '''HHT''', is an inherited syndrome.<ref>{{OMIM|187300}}</ref> It is commonly due to a mutation in ''ENG'' (CD105).<ref name=omim131195>{{OMIM|131195}}</ref> | ||
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== | ==General== | ||
*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/> | ||