Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations |
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| Authors: | K Steyn Y P Goldberg M J Kotze M Steyn A S P Swanepoel J M Fourie G A Coetzee D R Van der Westhuyzen |
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| Institution: | (1) Medical Research Council, PO Box 19070, Tygerberg 7505, South Africa, ZA;(2) Chronic Diseases of Lifestyle Programme of the Medical Research Council, Parowvallei, South Africa, ZA;(3) MRC/UCT Research Unit for the Cell Biology of Atherosclerosis, Department of Medical Biochemistry, University of Cape Town, South Africa, ZA;(4) Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa, ZA;(5) Group of Social Dynamics of the Human Sciences Research Council, Pretoria, South Africa, ZA;(6) Department of National Health Services and Population Development, Pretoria, South Africa, ZA |
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| Abstract: | We have determined the prevalence of familial hypercholesterolaemia (FH) in a rural Afrikaner community by means of direct
DNA screening for three founder-related Afrikaner low density lipoprotein (LDL) receptor gene mutations. A random sample of
1612 persons, aged 15–64 years, was selected as a subsample of 4583 subjects from an Afrikaner community living in the south-western
Cape, South Africa. Participants who had a total serum cholesterol (TC) in the high TC category as defined in the consensus
recommendations by the Southern African Heart Foundation, were screened for three founder-related LDL receptor gene mutations,
causing FH in 90% of Afrikaners. Of the subsample, 201 participants (12.5%) had TC levels above the 80th percentile. In this
group the combined prevalence of the three common Afrikaner LDL receptor gene defects (D206E, FH Afrikaner-1; V408M, FH Afrikaner-2;
D154N, FH Afrikaner-3) was calculated as 1 : 83. When taking into account the reported background prevalence of other FH gene
defects of 1 : 500 in this community, their overall prevalence of FH was estimated to be 1 : 72. The significant differences
found between the FH patients and other high risk patients with raised cholesterol levels were higher TC and LDL cholesterol
levels and lower high density lipoprotein cholesterol levels in FH patients. The treatment status of the molecularly identified
FH patients and other hypercholesterolaemic persons suggests that this condition is inadequately diagnosed and poorly managed
in this study population. An extrapolation to the entire South African population suggests that there are about 112 000 FH
patients in the country who are underdiagnosed as a group and therefore not receiving the care that would help to reduce the
burden of FH-associated ischaemic heart disease in South Africa.
Received: 30 November 1995 / Revised: 15 March 1996 |
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