A Scoping Review of Approaches for the Detection and Management of Familial Hypercholesterolaemia in Primary Care

BackgroundFamilial Hypercholesterolaemia (FH) is a genetic condition characterised by a lifelong elevation of low-density lipoprotein cholesterol (LDL-c). FH is one of the most common genetic diseases, with an estimated global prevalence of 1 in 250 individuals. However, it is both underdiagnosed and undertreated. Primary care can be a valuable asset for the opportunistic detection and management of FH. AimTo examine the employed strategies for improving the detection and management of FH in a primary care setting. MethodSix electronic databases (PubMed, The Cochrane Central Register of Controlled Trials, Web of Science, CINAHL, ProQuest, and Scopus) were searched from May - June 2022 for papers published in English following Arksey and OMalleys six-stage scoping review process. ResultsThe initial search identified 1401 articles and a total of 30 studies were included in this review. A diverse range of methods have been studied for improving identification of FH. Three studies examined reduction in patient LDL-c levels from management in primary care. Two thirds of the studies with primary care management had a significant reduction in patient LDL-c levels. ConclusionThe lack of consistency across the diagnostic criteria and the low number of studies addressing the reduction of patient LDL-c levels are major features of this review. Further research should be conducted to evaluate the effectiveness of the approaches for improving the detection and management of adult patients with FH in a primary care setting.