Diagnosis of familial hypercholesterolaemia through population screening

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by raised levels of low-density lipoprotein cholesterol (LDL-C) and premature cardiovascular disease (CVD) with a prevalence of 1 in 300 which can be successfully treated. These features make it amenable for large-scale screening.

This article reviews studies identified as using by the terms 'screening' and 'familial hypercholesterolaemia.' It highlights clinical criteria (LDL-C; Simon Broome and Dutch Lipid Clinic network scores) as well as machine learning and genetic testing approaches that have been applied to adult and pediatric populations.

Despite numerous pilot studies data remains limited as genetic testing is not always performed. Depending on healthcare and educational system models 2 approaches seem to be best. In adults tiered multicriteria screening (possibly allied to artificial intelligence approaches) are clinically and cost effective. Pediatric screening either using neonatal dried blood spots or tiered screening in school medical assessments is feasible and may be more cost effective. Genetic multi-disorder genetic testing is also feasible in children or adults. The choice of screening model in any country will depend on national models of care, local cost effectiveness and available resources for implementation.