Reaching detection targets in familial hypercholesterolaemia: Comparison of identification strategies

Familial hypercholesterolaemia (FH) is a common and preventable cause of premature heart attack but in most nations only a small proportion of FH-positive individuals have been identified. The aim of this study was to estimate the time to close this FH detection gap.

We developed a model to estimate the time to identify different proportions of FH in the population for three identification strategies (i) Cascade Testing (FH-mutation testing in relatives of someone with an FH mutation) (ii) Child-parent Screening (testing children for cholesterol and FH mutations during 1-year immunisation and parents of FH-positive children) and (iii) Child-parent Cascade Screening (integrating the first two methods). We used publicly available data to compare the strategies in terms of the time to identify 25%, 50% and 75% of all FH cases in the UK (current target is 25% in 5 years). For Child-parent Cascade Screening, we applied the model to other populations that have reported FH identification levels.

In the UK, 25% of FH individuals would be identified after 47 years for Cascade Testing, 12 years for Child-parent Screening and 8 years for Child-parent Cascade Screening; 50% identification after 146, 33 and 19 years and 75% after 334, 99 and 41 years respectively. For Child-parent Cascade Screening, the times to identify 50% FH were, for Netherlands, Norway, Japan, Canada, USA, Australia/NZ, South Africa and Russia, 0, 5, 13, 15, 16, 18, 21, and 30 years respectively.

Child-parent Cascade Screening is the fastest strategy for identifying FH in the population. The model is applicable to any country to estimate the time to close the FH detection gap (www.screenfh.com).