Familial hypercholesterolaemia

dc.contributor.authorBlom, D J
dc.date.accessioned2016-04-06T13:40:15Z
dc.date.available2016-04-06T13:40:15Z
dc.date.issued2011
dc.date.updated2016-04-06T08:46:55Z
dc.description.abstractamilial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised by markedly elevated LDL cholesterol, autosomal dominant inheritance, premature cardiovascular disease and tendon xanthomata. FH is a genetically heterogeneous disorder, but the most common underlying molecular cause is mutation of the LDL receptor gene. The worldwide prevalence of FH is 1:500. South Africa has three founder populations in which the prevalence of FH may be as high as 1:70. FH is diagnosed clinically, but the diagnosis can be confirmed by DNA analysis. DNA testing cannot always identify the causative mutation because there are several genes to examine and more than 1 500 different mutations have been identified in the LDL receptor alone. Statins are the treatment of choice for patients with FH. Ezetimibe or cholestyramine can be added if additional LDL lowering is required, or if patients are unable to tolerate high statin doses.en_ZA
dc.identifier.apacitationBlom, D. J. (2011). Familial hypercholesterolaemia. <i>South African Family Practice</i>, http://hdl.handle.net/11427/18670en_ZA
dc.identifier.chicagocitationBlom, D J "Familial hypercholesterolaemia." <i>South African Family Practice</i> (2011) http://hdl.handle.net/11427/18670en_ZA
dc.identifier.citationBlom, D. J. (2011). Familial hypercholesterolaemia. South African Family Practice, 53(1), 11-18.en_ZA
dc.identifier.issn1726-426Xen_ZA
dc.identifier.ris TY - Journal Article AU - Blom, D J AB - amilial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised by markedly elevated LDL cholesterol, autosomal dominant inheritance, premature cardiovascular disease and tendon xanthomata. FH is a genetically heterogeneous disorder, but the most common underlying molecular cause is mutation of the LDL receptor gene. The worldwide prevalence of FH is 1:500. South Africa has three founder populations in which the prevalence of FH may be as high as 1:70. FH is diagnosed clinically, but the diagnosis can be confirmed by DNA analysis. DNA testing cannot always identify the causative mutation because there are several genes to examine and more than 1 500 different mutations have been identified in the LDL receptor alone. Statins are the treatment of choice for patients with FH. Ezetimibe or cholestyramine can be added if additional LDL lowering is required, or if patients are unable to tolerate high statin doses. DA - 2011 DB - OpenUCT DP - University of Cape Town J1 - South African Family Practice LK - https://open.uct.ac.za PB - University of Cape Town PY - 2011 SM - 1726-426X T1 - Familial hypercholesterolaemia TI - Familial hypercholesterolaemia UR - http://hdl.handle.net/11427/18670 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/18670
dc.identifier.urihttp://www.safpj.co.za/index.php/safpj/article/view/1629
dc.identifier.vancouvercitationBlom DJ. Familial hypercholesterolaemia. South African Family Practice. 2011; http://hdl.handle.net/11427/18670.en_ZA
dc.languageengen_ZA
dc.publisherSouth African Academy of Family Physiciansen_ZA
dc.publisher.departmentDivision of Lipidologyen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/en_ZA
dc.sourceSouth African Family Practiceen_ZA
dc.source.urihttp://www.safpj.co.za/index.php/safpj
dc.subject.otherfamilial hypercholesterolaemia
dc.subject.otherlow-density lipoprotein receptor
dc.subject.otherapolipoprotein B100
dc.subject.otherPCSK9
dc.subject.othertendon xanthomata
dc.titleFamilial hypercholesterolaemiaen_ZA
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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