A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia

Familial hypercholesterolemia (FH) is one of the most common genetic conditions, with a prevalence of approximately 1 in 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.

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

A total of 46 studies across 32 countries were included in the review. All studies were effective in increasing FH detection. In total, 12 different intervention types were extracted with the most used being cascade and electronic medical record screening-based interventions.

Given the diversity of effective interventions identified in this review, future 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 2-step indirect and direct contact method of index cases' relatives.