Familial hypercholesterolaemia affects about two in every 1,000 people but there is uncertainty over what screening strategy is likely to be effective (BMJ Online First).
Researchers at Barts and the London Queen Mary's School of Medicine and Dentistry analysed published studies on total and LDL cholesterol in people with and without familial hypercholesterolaemia to determine the efficacy of screening and the optimum age.
From 13 studies involving 1,907 cases and 16,221 controls, they found that screening was most effective if done between one and nine years. Screening at this age detected 88 per cent of affected individuals, while screening newborns and young adults was much less effective.
Based on these results, the authors suggested children could be screened when they visit their local practice for routine vaccinations at about 15 months of age.
Once an affected child is identified, their parents would then also be screened. Treatment to lower cholesterol could then be initiated immediately in the affected parent and delayed in the child until adulthood.
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