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Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

Leonard, JV; Whitelaw, AG; Wolff, OH; Lloyd, JK; Slack, J; (1977) Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol. Br Med J , 1 (6076) pp. 1566-1568.

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Abstract

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.

Type: Article
Title: Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.
Location: England
Keywords: Adolescent, Child, Child, Preschool, Cholesterol, Coronary Disease, Female, Heterozygote, Humans, Hypercholesterolemia, Infant, Male, Sex Factors
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health
URI: http://discovery.ucl.ac.uk/id/eprint/1371404
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