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

Background Familial 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. Aim To examine the employed strategies for improving the detection and management of FH in a primary care setting. Method Six 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 O’Malley’s six-stage scoping review process. Results The 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. Conclusion The 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. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study did not receive any funding ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes All data produced are available online