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.
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Selected References
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- Brown M. S., Goldstein J. L. Familial hypercholesterolemia: A genetic defect in the low-density lipoprotein receptor. N Engl J Med. 1976 Jun 17;294(25):1386–1390. doi: 10.1056/NEJM197606172942509. [DOI] [PubMed] [Google Scholar]
- CORNWELL D. G., KRUGER F. A., HAMWI G. J., BROWN J. B. Studies on the characterization of human serum lipoproteins separated by ultracentrifugation in a density gradient. I. Serum lipoproteins in normal, hyperthyroid and hypercholesterolemic subjects. Am J Clin Nutr. 1961 Jan-Feb;9:24–40. doi: 10.1093/ajcn/9.1.24. [DOI] [PubMed] [Google Scholar]
- Fosbrooke A. S., Pringle G. A. Improved precision for the autoanalyser determination of serum cholesterol. Clin Chim Acta. 1970 Oct;30(1):47–52. doi: 10.1016/0009-8981(70)90191-9. [DOI] [PubMed] [Google Scholar]
- KHACHADURIAN A. K. THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA. Am J Med. 1964 Sep;37:402–407. doi: 10.1016/0002-9343(64)90196-2. [DOI] [PubMed] [Google Scholar]
- Kwiterovich P. O., Jr, Fredrickson D. S., Levy R. I. Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood. J Clin Invest. 1974 May;53(5):1237–1249. doi: 10.1172/JCI107670. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Leonard J. V., Fosbrooke A. S., Lloyd J. K., Wolff O. H. Screening for familial hyper-beta-lipoproteinaemia in children in hospital. Arch Dis Child. 1976 Nov;51(11):842–847. doi: 10.1136/adc.51.11.842. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lloyd J. K., Wolff O. H. A paediatric approach to the prevention of atherosclerosis. J Atheroscler Res. 1969 Sep-Oct;10(2):135–138. doi: 10.1016/s0368-1319(69)80001-3. [DOI] [PubMed] [Google Scholar]
- Murphy E. A., Bolling D. R. Testing of single locus hypotheses where there is incomplete separation of the phenotypes. Am J Hum Genet. 1967 May;19(3 Pt 1):322–334. [PMC free article] [PubMed] [Google Scholar]
- Patterson D., Slack J. Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives. Lancet. 1972 Feb 19;1(7747):393–399. doi: 10.1016/s0140-6736(72)90853-7. [DOI] [PubMed] [Google Scholar]
- Slack J. Genetic differences in liability to atherosclerotic heart disease. J R Coll Physicians Lond. 1974 Jan;8(2):115–126. [PMC free article] [PubMed] [Google Scholar]
- Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet. 1969 Dec 27;2(7635):1380–1382. doi: 10.1016/s0140-6736(69)90930-1. [DOI] [PubMed] [Google Scholar]