A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia

Objectives: To systematically evaluate the cost-effectiveness of screening and treatment of familial hypercholesterolaemia (FH).

Methods: An extensive search strategy using MeSH terms was used to search Medline, Embase, EBM review (includes databases such as the Centre for Reviews and Dissemination database), the NHS Economic-Evaluation Database, the HTA database, the Cochrane Library and the Database of Abstracts of Reviews of Effects. Completed studies that evaluated cost-effectiveness of treatment and screening of FH were included. Two reviewers independently assessed the quality of the studies. The studies were assessed using the Consensus on Health-Economic Criteria and a published checklist for evaluating model-based economic evaluations (EE).

Results: Nine studies were identified. Three studies that focused on lipid-lowering treatment among patients with known FH suggested this strategy is highly cost-effective. Six studies reported on the cost-effectiveness of FH screening, and subsequent treatment of those identified with the condition. Compared with no screening, the incremental cost-effectiveness ratio of screening ranged from €3177-€29,554 per life year gained. The results of modelled EE were sensitive to the underlying prevalence of FH among the population being screened, the validity of the screening test and the price and efficacy of lipid-lowering therapy.

Conclusion: Overall, cascade screening for new cases of FH appears to be cost-effective. However, there were uncertainties in the modelling methods, especially with regard to the underlying prevalence of FH, validity of the screening tests, and use of different approaches to assess the outcomes of treatment. Further health EE based on high quality and country-specific data are required.