Diagnosis of familial hypercholesterolemia through population screening

Introduction 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.Areas covered 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.Expert opinion Despite numerous pilot studies, data remain limited as genetic testing is not always performed. Depending on healthcare and educational system models, two approaches seem to be best. In adults, tiered multicriteria screening (possibly allied to artificial intelligence approaches) is clinically 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 multidisorder 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.