OBJECTIVES : Studies have shown that atherosclerosis in heterozygous familial hypercholesterolemia (HeFH) starts at birth and is reversible in childhood. Hitherto no economic evaluation has shown the impact of screening and early treatment in children with HeFH. We investigated the impact and cost-effectiveness of offering screening and preventive treatment to children with HeFH from the perspective of the Dutch healthcare.

METHODS : Screening and preventive treatment with statins was modelled to simulate the progression of ten-year olds suspected of having HeFH over a lifetime. The model consisted of three health states (alive without coronary heart disease (CHD), alive with CHD, and dead). The prevalence of HeFH in this target population was 54.13%, and the sensitivity and specificity of testing was 100%. The decision tree consisted of confirmation and immediate treatment with statins, and the comparator was usual care. Mendellian-Randomisation-Analysis data was used to understand the lifelong exposure to elevated low-density-lipoprotein- cholesterol. Costs and outcome data was sourced from the Dutch registry and other published sources. Cost-effectiveness was defined as below €20,000/QALY (quality-adjusted life years) gained, using incremental cost-effectiveness ratios (ICERs), compared with usual care. All future benefits and costs were discounted annually by 1.5% and 4% respectively.

RESULTS : Screening and early treatment at age 10 years compared with usual care would save 4.22 life years gained (LYG) and 4.13 QALYs per person (undiscounted). Discounted results showed that an initiation of treatment at age 10 years compared with usual care was predicted to achieve 2.18 LYG and 2.22 QALYs gained per person, at an additional cost of €8,617. These equated to ICERs of €3957 per LYG gained and €3880 per QALY gained.

CONCLUSIONS : Screening and initiation of statins in children with HeHF from age 10 years is highly cost-effective over a lifetime. Our findings and conclusion are conditional on the assumptions inherent in our health economic model.