Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.
The serum cholesterol concentrations of 134 children aged 1-16 years who had at least one first-degree relative with presumed familial hypercholesterolaemia showed a bimodal distribution, and, using the maximum likelihood technique, two overlapping curves could be fitted. The mean value of the affected children (heterozygotes) was 8-9 mmol/l and that of the unaffected 4-9 mmol/l. The two curves intersected at 6-77 mmol/l, and at this point 5% of the unaffected children had values over 6-77 mmol/l and 3-5% of the heterozygotes had values under 6-77 mmol/l. If this cholesterol concentration is used as a cut-off point 4-25% of cases would be misdiagnosed.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood*; D003327:Coronary Disease / Q000517:prevention & control; D005260:Female; D006579:Heterozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D008297:Male; D012737:Sex Factors
D002784:Cholesterol