ABSTRACT Background Familial hypercholesterolemia is a prevalent genetic disorder with global implications for severe cardiovascular diseases. As the scrutiny on evaluating its economic impact intensifies, an imperative arises for a worldwide synthesis of economic evidence related to familial hypercholesterolemia screening. This study aims to globally examine economic assessments of familial hypercholesterolemia, synthesize evidence, and present economic insights into the impact of familial hypercholesterolemia screening on population equity. Methods A comprehensive, systematic literature review was conducted to identify economic evaluations of familial hypercholesterolemia screening programs. The quality appraisal of literature was guided by the quality of health economic studies instrument and consolidated health economic evaluation reporting standards 2022. Meta-analysis techniques were applied to integrate findings from various studies, focusing on the total cost-effectiveness and total net health benefit associated with both cascade and universal screening programs for familial hypercholesterolemia. An aggregate distributional cost-effectiveness analysis was employed to determine the potential impact of screening programs on health equity across populations. Results The study results reveal significant differences in the economic evaluations of familial hypercholesterolemia across different countries, and we provide detailed descriptions of unique characteristics. The combined results of cost-effectiveness analyses indicate that 90% of screening for familial hypercholesterolemia is cost-effective. Meta-analysis synthesized the economic impacts of seven sets of cascade and universal screening across diverse health outcomes. Aggregate distributional cost-effectiveness analysis showed that the difference was positive across all six studies, indicating that familial hypercholesterolemia screening strategy has the potential to mitigate health inequalities. Conclusion This study provides a global perspective on familial hypercholesterolemia economic evaluation. Despite international variations, findings suggest that, in the majority of cases, familial hypercholesterolemia screening is cost-effective, improving health equity and overall population health. The study offers a positive outlook for future health decisions.

The authors have declared no competing interest.

This study did not receive any funding

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