Research Article

Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

Br Med J 1977; 1 doi: http://dx.doi.org/10.1136/bmj.1.6076.1566 (Published 18 June 1977) Cite this as: Br Med J 1977;1:1566
  1. J V Leonard,
  2. A G Whitelaw,
  3. O H Wolff,
  4. J K Lloyd,
  5. J Slack

    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.