Objective. To estimate the proportion of patients with familial hypercholesterolaemia (FH) who were identified with hypercholesterolaemia in general practice prior to screening by means of pedigree research and DNA analysis by the National Foundation for the Identification of Familial Hipercholesterolemia (StOEH). Design. Retrospective. Method. General practice files of FH patients, diagnosed through genetic screening by the StOEH in 1992-1997 whose general practitioner's (GP's) practice in Amsterdam, Haarlem or Alkmaar, were studied for cholesterol and FH related information documented in the period prior to the screening. Results. Out of the 121 persons selected 80 agreed to the study; one GP refused to co-operate. There was no difference between respondents and non respondents with regard to age, sex or domicile of the GP. In 48 of 79 (61%) general practice files studied, cholesterol measurements were reported prior to screening; 39 patients (49%) had hypercholesterolaemia and 29 (37%) were being treated with cholesterol lowering drugs. Mean age of the FH patients who had no record of their cholesterol levels was 25.1 years (SD: 17.0) at the time of screening, 22 years younger than the mean age of FH patients who did have cholesterol levels on record prior to screening (47.1 (SD: 18.4); p < 0.0001). Conclusion. Of the FH patients identified through family based genetic screening especially the younger FH patients are newly brought to the attention of their GP.@en

Aims: To estimate the cost-effectiveness of the current screening programme on Familial Hypercholesterolaemia (FH) in relatives of diagnosed FH-patients in The Netherlands. Methods and Results: Data from 2229 screened FH-relatives, including age, sex, risk factor status and screening outcome, were combined with the Framingham risk function and national disease-specific cost data to arrive at a model-based comparison of survival and costs, with and without the screening programme. Cost-effectiveness ratios were computed for various treatment strategies, with no screening as reference. Costs per life year gained varied between 25·5- and 32-thousand Euros, depending upon the precise treatment strategy after a positive screen. The costs for screening (tracing the FH-positive individuals) were much lower than the follow-up costs (treatment), of which 80% were costs for statins. Consequently, the costs per life year gained of alternative screening programmes are about the same. Conclusion: The cost-effectiveness ratio of FH screening is within the range requiring explicit political consideration in The Netherlands. As the costs of statin treatment are the single most important determinant of costs, policy decisions reduce to decisions on the acceptability of statin treatment for this risk group. Pending major changes in statin price, clear guidelines should be developed on how screen positive individuals should be treated, since not all of them have an elevated cholesterol level.@en