Familial hypercholesterolaemia: the Cape Town experience
| dc.contributor.author | Firth, Jean C | |
| dc.contributor.author | Marais, A David | |
| dc.date.accessioned | 2016-04-11T10:02:08Z | |
| dc.date.available | 2016-04-11T10:02:08Z | |
| dc.date.issued | 2008 | |
| dc.date.updated | 2016-01-08T09:16:35Z | |
| dc.description.abstract | Familial hypercholesterolaemia (FH), an autosomal dominantly inherited disorder characterised by elevated plasma low-density lipoprotein (LDL) cholesterol levels, tendon xanthomata and premature ischaemic heart disease, is amenable to treatment with modern medication. The clinical and biochemical details of 1 031 patients with FH were analysed. FH is the most common monogenic disorder of lipoprotein metabolism presenting to the Lipid Clinic at Groote Schuur Hospital, accounting for about 20% of consultations. The hospital classified 55% of the FH patients as white, 43% as coloured, 1.5% as Asian and 0.5% as black. In the FH cohort (whose mean age at presentation was 44 years), 80% had tendon xanthomata, 36% had arcus cornealis, and 14% had xanthelasma. Tendon xanthomata was present in almost 90% of patients by the age of 50 years. Arcus cornealis was present in about 45% by the age of 40 years, further increasing in frequency with age. Cardiovascular complications included ischaemic heart disease (43%), stroke (1.5%), transient ischaemic attacks (1.3%), and peripheral vascular disease (3.7%). The mean age of death was 55 (+13) years; 51 (+10) years in men and 61 (+12) years in women. In 46% of the cohort, a defective gene was identified by testing for locally prevalent mutations. | en_ZA |
| dc.identifier.apacitation | Firth, J. C., & Marais, A. D. (2008). Familial hypercholesterolaemia: the Cape Town experience. <i>South African Medical Journal</i>, http://hdl.handle.net/11427/18743 | en_ZA |
| dc.identifier.chicagocitation | Firth, Jean C, and A David Marais "Familial hypercholesterolaemia: the Cape Town experience." <i>South African Medical Journal</i> (2008) http://hdl.handle.net/11427/18743 | en_ZA |
| dc.identifier.citation | Firth, J. C., & Marais, A. D. (2008). Familial hypercholesterolaemia: the Cape Town experience: original article. South African Medical Journal, 98(2), 99-104. | en_ZA |
| dc.identifier.issn | 0256-9574 | en_ZA |
| dc.identifier.ris | TY - Journal Article AU - Firth, Jean C AU - Marais, A David AB - Familial hypercholesterolaemia (FH), an autosomal dominantly inherited disorder characterised by elevated plasma low-density lipoprotein (LDL) cholesterol levels, tendon xanthomata and premature ischaemic heart disease, is amenable to treatment with modern medication. The clinical and biochemical details of 1 031 patients with FH were analysed. FH is the most common monogenic disorder of lipoprotein metabolism presenting to the Lipid Clinic at Groote Schuur Hospital, accounting for about 20% of consultations. The hospital classified 55% of the FH patients as white, 43% as coloured, 1.5% as Asian and 0.5% as black. In the FH cohort (whose mean age at presentation was 44 years), 80% had tendon xanthomata, 36% had arcus cornealis, and 14% had xanthelasma. Tendon xanthomata was present in almost 90% of patients by the age of 50 years. Arcus cornealis was present in about 45% by the age of 40 years, further increasing in frequency with age. Cardiovascular complications included ischaemic heart disease (43%), stroke (1.5%), transient ischaemic attacks (1.3%), and peripheral vascular disease (3.7%). The mean age of death was 55 (+13) years; 51 (+10) years in men and 61 (+12) years in women. In 46% of the cohort, a defective gene was identified by testing for locally prevalent mutations. DA - 2008 DB - OpenUCT DP - University of Cape Town J1 - South African Medical Journal LK - https://open.uct.ac.za PB - University of Cape Town PY - 2008 SM - 0256-9574 T1 - Familial hypercholesterolaemia: the Cape Town experience TI - Familial hypercholesterolaemia: the Cape Town experience UR - http://hdl.handle.net/11427/18743 ER - | en_ZA |
| dc.identifier.uri | http://hdl.handle.net/11427/18743 | |
| dc.identifier.uri | http://www.samj.org.za/index.php/samj/article/view/423 | |
| dc.identifier.vancouvercitation | Firth JC, Marais AD. Familial hypercholesterolaemia: the Cape Town experience. South African Medical Journal. 2008; http://hdl.handle.net/11427/18743. | en_ZA |
| dc.language | eng | en_ZA |
| dc.publisher | Health and Medical Publishing Group | 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 Works License (CC BY-NC 3.0) | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/ | en_ZA |
| dc.source | South African Medical Journal | en_ZA |
| dc.source.uri | http://reference.sabinet.co.za/sa_epublication_article/m_samj_v98_n2_a13 | |
| dc.title | Familial hypercholesterolaemia: the Cape Town experience | 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 |