Universal screening for familial hypercholesterolaemia: how can we maximise benefits and minimise potential harm for children and their families?

Abstract

Purpose of review: Universal Screening programmes to identify subjects with familial hypercholesterolaemia (FH) have been the subject of much recent interest. However, any screening programme can cause harm as well as having potential benefits. Here we review recent papers using different ages and strategies to identify subjects with FH, and examine to what extent the publications provide quantitative or qualitative evidence of benefit or harm to children and adults.

Recent findings: Three studies have been published over the last 2 years where Universal Screening for FH has been carried out in infancy, at the time of routine vaccinations, or at preschool age. Next-generation sequencing of all known FH-causing genes has been used to determine the proportion of screened individuals, who have total or low-density lipoprotein cholesterol (LDL-C) concentrations above a predetermined threshold (such as >95th percentile), with genetically confirmed FH.

Summary: While we fully support the concept of Universal Screening for FH, which appears feasible and of potential clinical utility at all of the different ages examined, there is little data to document potential benefit or how to mitigate potential harms. Future study protocols should include collection of such data to strengthen the case of roll out of Universal Screening programmes.