Key result
Cholesterol cut-off of 6.77 mmol/l misdiagnoses ~4% of children with familial hypercholesterolaemia.
Why the study?
The accuracy of diagnosing familial hypercholesterolaemia in children by measuring serum cholesterol concentrations was uncertain due to overlapping cholesterol values between affected and unaffected children.
Cross-Sectional (n=134)
Supports cholesterol screening for FH in at-risk children; leaves open validation of 6.77 mmol/l cutoff before clinical adoption.
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.
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Leonard et al. (1977) conducted a cross-sectional in Familial hypercholesterolaemia (n=134). Serum cholesterol measurement was evaluated on Misdiagnosis rate at optimal cut-off. Using a serum cholesterol concentration of 6-77 mmol/l as a cut-off point to diagnose familial hypercholesterolaemia in at-risk children resulted in a 4-25% misdiagnosis rate.
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