Abstract
The risks of death from coronary heart disease among heterozygotes for familial hypercholesterolaemia are well known and are so high that attempts at prevention are usually undisputed. The earlier diagnosis can be established the sooner treatment can be started and the ideal must be to diagnose the heterozygous state during childhood. However, where the diagnosis carries such a serious prognosis and treatment will be instigated for life it is important that the diagnosis should be correct. The best chance of making a correct diagnosis is among the children of known heterozygotes in whom there is a 1 in 2 chance that they will be affected; but among these children measurement of total serum cholesterol as well as low density lipoprotein cholesterol segregates into two overlapping G-aussian distributions of normal and heterogous individuals.
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References
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Slack, J., Preece, M., Giles, P. (1980). Identification of Children Who Are Heterozygotes for Familial Hypercholesterolaemia. In: Gotto, A.M., Smith, L.C., Allen, B. (eds) Atherosclerosis V. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-6071-4_47
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DOI: https://doi.org/10.1007/978-1-4612-6071-4_47
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4612-6073-8
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