Familial hypercholesterolaemia
| dc.contributor.author | Blom, D J | |
| dc.date.accessioned | 2016-04-06T13:40:15Z | |
| dc.date.available | 2016-04-06T13:40:15Z | |
| dc.date.issued | 2011 | |
| dc.date.updated | 2016-04-06T08:46:55Z | |
| dc.description.abstract | 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. | en_ZA |
| dc.identifier.apacitation | Blom, D. J. (2011). Familial hypercholesterolaemia. <i>South African Family Practice</i>, http://hdl.handle.net/11427/18670 | en_ZA |
| dc.identifier.chicagocitation | Blom, D J "Familial hypercholesterolaemia." <i>South African Family Practice</i> (2011) http://hdl.handle.net/11427/18670 | en_ZA |
| dc.identifier.citation | Blom, D. J. (2011). Familial hypercholesterolaemia. South African Family Practice, 53(1), 11-18. | en_ZA |
| dc.identifier.issn | 1726-426X | en_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.uri | http://hdl.handle.net/11427/18670 | |
| dc.identifier.uri | http://www.safpj.co.za/index.php/safpj/article/view/1629 | |
| dc.identifier.vancouvercitation | Blom DJ. Familial hypercholesterolaemia. South African Family Practice. 2011; http://hdl.handle.net/11427/18670. | en_ZA |
| dc.language | eng | en_ZA |
| dc.publisher | South African Academy of Family Physicians | en_ZA |
| dc.publisher.department | Division of Lipidology | en_ZA |
| dc.publisher.faculty | Faculty of Health Sciences | en_ZA |
| dc.publisher.institution | University of Cape Town | |
| dc.rights | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | en_ZA |
| dc.source | South African Family Practice | en_ZA |
| dc.source.uri | http://www.safpj.co.za/index.php/safpj | |
| dc.subject.other | familial hypercholesterolaemia | |
| dc.subject.other | low-density lipoprotein receptor | |
| dc.subject.other | apolipoprotein B100 | |
| dc.subject.other | PCSK9 | |
| dc.subject.other | tendon xanthomata | |
| dc.title | Familial hypercholesterolaemia | en_ZA |
| dc.type | Journal Article | en_ZA |
| uct.type.filetype | Text | |
| uct.type.filetype | Image | |
| uct.type.publication | Research | en_ZA |
| uct.type.resource | Article | en_ZA |