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 112000 FH patients in the country who are under-diagnosed 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.

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BackgroundCongestive heart failure (CHF), a common problem in adults, is associated with multiple hospitalizations, high mortality rates and high costs.PurposeTo evaluate whether home care for homebound patients with CHF reduces healthcare service utilization and overall costs.MethodsA retrospective study of healthcare utilization among homebound patients who received home care for CHF from 2012–1015. The outcome measures were number of hospital admissions per month, total number of hospitalization days and days for CHF only, emergency room visits, and overall costs. A comparison was conducted between the 6-month period prior to entry into home care and the time in home care.ResultsOver the study period 196 patients were treated by home care for CHF with a mean age of 79.4±9.5 years. 113 (57.7%) were women. Compared to the six months prior to home care, there were statistically significant decreases in hospitalizations (46.3%), in the number of total in-hospital days (28.7%), in the number of in-hospital days for CHF (66.7%), in emergency room visits (47%), and in overall costs (23.9%).ConclusionHome care for homebound adults with CHF can reduce healthcare utilization and healthcare costs.

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