J Clin Lipidol. 2026 Jun 2:S1933-2874(26)00369-7. doi: 10.1016/j.jacl.2026.05.231. Online ahead of print.
ABSTRACT
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol from birth and increased risk of premature atherosclerotic cardiovascular disease. Early initiation of lipid-lowering therapies improves outcomes, and advances in genetic testing, electronic health record (EHR)-based algorithms, and cascade screening have strengthened identification. Despite these advances, FH remains underdiagnosed and undertreated, reflecting an "implementation gap" between patient identification and initiation of therapy.
OBJECTIVE: This review synthesizes evidence from randomized trials, implementation studies, registries, and digital health interventions aimed at closing the FH implementation gap.
METHODS: Strategies were organized across patient, clinician, and health system levels, including EHR-integrated clinical decision support systems, multidisciplinary lipid clinics, automatic referral systems, shared decision-making tools, mobile health applications, population dashboards, risk registries, and emerging machine learning approaches to enhance clinician adoption of new strategies.
RESULTS: Evidence supports several effective strategies to close the FH care gap. EHR-integrated clinical decision support and multidisciplinary lipid clinics consistently improve lipid testing, prescribing, and treatment initiation, though real-world adoption remains low. Patient-facing digital tools enhance education and adherence but require further validation of long-term outcomes. Emerging approaches using artificial intelligence may strengthen case detection and workflow integration.
CONCLUSION: Evidence suggests that no single intervention is sufficient to close the FH care gap. Effective implementation requires a combination of approaches, such as multidisciplinary clinics and clinician decision support, with digital and patient engagement tools. Integrating these strategies within routine practice will be essential to reducing preventable morbidity and mortality in FH.
PMID:42336685 | DOI:10.1016/j.jacl.2026.05.231