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. 1993 Aug;46(8):730–733. doi: 10.1136/jcp.46.8.730

Familial hypercholesterolaemia: pilot study to identify children at risk.

C J Taylor 1, S Olpin 1, J Rattenbury 1, A Whippey 1, C Lunt 1, N Beckles-Willson 1, J Higginbottom 1, R J Pollitt 1, J Bonham 1, L S Taitz 1
PMCID: PMC501458  PMID: 8408697

Abstract

AIMS--To evaluate a more effective method of identifying children with familial hypercholesterolaemia by screening a population at high risk. METHODS--Domiciliary measurement of random cholesterol concentration was made in 200 children who were first or second degree relatives of subjects with premature onset coronary artery disease. Measurements were taken by a health visitor using a portable analyser. RESULTS--Twelve new cases of familial hypercholesterolaemia were identified during the first nine months of the study. Random cholesterol concentrations were within the normal range (< 5.2 mmol/l) in 70.5% of samples tested. Forty two (21%) of patients tested had a borderline cholesterol (5.2-5.9 mmol/l) but 50% of these fell within the normal range when fasting capillary samples were analysed. Children with significant hypercholesterolaemia on random testing (concentrations of > 5.9 mmol/l) (8.5%) also had fasting venous blood assayed for high density lipoprotein (HDL) cholesterol and tri-glyceride in the laboratory. Results indicated that 6.5% of patients screened were at high risk of cardiovascular disease (ratio of total: HDL cholesterol of > 4.5), and 1% had a moderately increased risk (ratio 3.5-4.5). CONCLUSIONS--Children with familial hypercholesterolaemia can be identified from a selected "high risk" population by measuring random capillary cholesterol concentration.

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Selected References

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