Microsimulation Modelling of Familial Hypercholesterolaemia Inheritance

Familial hypercholesterolaemia (FH) is a highly prevalent monogenic disorder affecting ~ 1/250 of the general population worldwide, and is characterised by lifelong and severely elevated low-density lipoprotein cholesterol, increasing the risk of premature coronary artery disease. Approximately 50% of first-degree relatives will inherit FH, but despite its global prevalence and the availability of effective treatment with statins FH remains underdiagnosed and undertreated worldwide with few countries achieving detection rates of even 10%, and only a handful of countries have implemented nationwide screening programs. FH modelling is relatively understudied, and traditional models do not account for spillover effects to future generations. Therefore, to aid policy-makers in designing an efficacious screening strategy, we developed a microsimulation model based upon census data to model FH propagation by simulating family trees with the aim of adapting it to model detection rates, health benefits from treatment, and costs as well as being generalised to any population.