A Scoping Review of Interventions Increasing Screening and Diagnosis of Familial Hypercholesterolemia

Abstract

Purpose Familial Hypercholesterolemia (FH) is one of the most common genetic conditions, with a prevalence of ~1/250 individuals. If left untreated, FH greatly increases risk for cardiovascular disease and premature death. Currently, FH is largely underdiagnosed, and interventions are needed to increase identification. The purpose of this study was to identify effective interventions aimed at increasing FH diagnosis.

Methods A scoping review of the literature addressing interventions to increase FH detection was conducted. Included studies detailed interventions which increased screening and detection of FH globally. Studies were characterized by intervention type and analyzed for themes using the Consolidated Framework for Implementation Research.

Results A total of 46 studies were included in the review across 32 countries. All studies were effective in increasing FH detection. Twelve different intervention types were extracted with the most used being cascade and electronic medical record screening-based interventions.

Conclusions Given the versatility of effective interventions in this review, efforts could explore approaches that maximize identification through a combination of interventions. Our results support one such strategy that uses electronic medical records to screen for index cases and a two-step indirect and direct contact method of index cases’ relatives.