Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

摘要: Summary Background Familial hypercholesterolaemia is a common lipid disorder that predisposes for premature cardiovascular disease (CVD). We set up screening programme in the Netherlands 1994 to: establish feasibility of active family supported by DNA diagnostics; assess whether or not identification these patients with familial would lead to more cholesterol-lowering treatment; and compare diagnosis analysis cholesterol measurement. Methods Both measurement concentrations were used screen families which functional mutation LDL-receptor gene had been detected. Findings In first 5 years, 5442 relatives 237 people screened; 2039 individuals identified as heterozygous analysis. At time examination, 667 adults (39%) received some form lipid-lowering 1 year later, this percentage increased 93%. addition, laboratory showed carriers well noncarriers 18% have misdiagnosed alone, sex-specific age-specific 90th percentiles general Dutch population diagnostic criteria. Interpretation Targeted proved be highly effective identifying hypercholesterolaemia. Most sought treatment successfully started on lower risk CVD. Our findings could wider relevance other prevalent genetic disorders at large.