OBJECTIVES : There are no studies that have investigated the cost-effectiveness of cascade screening of children for heterozygous familial hypercholesterolemia (FH) and treatment of affected individuals with statins to prevent coronary heart disease (CHD), from the perspective of the Australian public healthcare system.

METHODS : A lifetime Markov model with four health states (Alive without CHD, Alive with CHD, Dead from fatal CHD, and Dead from other causes) was developed to simulate the progression of ten- year-old children screened for FH and treated immediately with statins if found to have FH. The underlying prevalence of FH in this target population was assumed to be 56.8%, and the sensitivity and specificity of testing was 100%. The comparator was usual care. The effect of reducing low-density lipoprotein cholesterol (LDL-C) on the risk of a first event at each age assumed that risk was proportional to total lifetime exposure and was implemented using Mendelian randomisation analysis data. Cost and other outcome data were sourced from published sources. Outcome of interests were costs in Australian dollars (AUD), life years gained (LYG) and quality-adjusted life years (QALYs) gained, as well as incremental cost-effectiveness ratios (ICERs) of costs per LYG and per QALY gained. All future costs and outcomes were discounted by 5% annually.

RESULTS : There were 0.97 LYG and 1.07 QALYs gained per person, at net reduction cost of -$1134 (discounted). The cascade screening of ten year-old children for FH and initiation of treatment compared to usual case was cost saving approach. In the 51.2% of iteration screening and initiation with statin was cost saving and in 48.8% of iterations was cost-effective. In most sensitivity analysis, the ICER stayed within the accepted Australian threshold.

CONCLUSIONS : Compared to usual care, cascade screening of ten year old children for FH and treating affected individuals is likely to be cost saving.