Ischaemic heart disease risk factors, with particular reference to familial hypercholesterolaemia, were studied in 47 male and 6 female Afrikaners, aged 55 years and under, admitted to hospital for coronary bypass surgery. The outstanding feature in this group with severe coronary atherosclerosis demonstrated angiographically was that about half had severe hypercholesterolaemia (greater than or equal to 8.5 mmol/l), and that of the severely hypercholesterolaemic patients about half again had familial hypercholesterolaemia (FH). This yielded an overall prevalence of FH in the 53 cases of 1 in 4 (26.7%) and strongly supports the contention that FH is a major risk factor for severe coronary artery disease in young Afrikaners. The only other risk factor of importance was cigarette smoking, about 80% of the patients being current or ex-smokers.
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Mol Biol Rep
December 2020
Department of Haematology and Cell Biology, University of the Free State, Bloemfontein, South Africa.
Hereditary haemorrhagic telangiectasia (HHT) is supposedly rare in Africa, with only three pathogenic variants documented to date. We describe the clinical and genetic features of HHT patients in central South Africa, who fulfilled the Curaçao criteria. Sixteen patients (median age 38.
View Article and Find Full Text PDFArterioscler Thromb Vasc Biol
November 2020
Medpace and Medpace Reference Laboratories, Cincinnati, OH (E.M.B., T.A.T., E.A.S.).
Objective: Due to gene founder effects, familial hypercholesterolemia (FH) has a prevalence of ≈1:80 in populations of Afrikaner ancestry and is a major contributor to premature atherosclerotic cardiovascular disease in South Africans of Jewish and Indian descent. No systematic program exists to identify these families. Furthermore, information regarding FH prevalence in Black Africans is sparse.
View Article and Find Full Text PDFJ Neurol Sci
January 2018
Human Metabolomics, North-West University, Potchefstroom, South Africa.
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including congenital abnormalities with unresponsiveness to riboflavin treatment as distinguishing features. From a retrospective study, relying mainly on metabolic data, we have identified a novel mutation, c.1067G>A (p.
View Article and Find Full Text PDFBackground: The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the gene are the most common large-effect genetic risk factor for Parkinson's disease. The primary objective of this study was to determine the prevalence of substitutions in South Africans with idiopathic Parkinson's disease.
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