Early detection and treatment of FH might reduce the burden of cardiovascular disease (CVD) because the majority of people with FH go untreated. Therefore, this study was to assess the estimated cost-effectiveness of population sequential FH screening at ages 10 or 18 (lipid testing followed by genetic testing following a high low-density lipoprotein cholesterol (LDL-C) reading).
A hypothetical cohort of 4.2 million US 10-year-olds was used to simulate lifetime health and economic outcomes from the perspective of the health care sector using the CVD Policy Model, a validated discrete event simulation of CVD risk factor management and CVD outcomes in National Health and Nutrition Examination Survey participants.
Survival probability and CVD events (stroke or coronary heart disease) were influenced by individual variables and medical procedures. National data sources, clinical trials, pooled longitudinal cohort studies, and published literature were among the model's inputs. Only opportunistic lipid testing, LDL-C, and CVD risk-guided medication were assumed in standard care. To choose patients for genetic testing, sequential FH screening schemes looked at combinations of childhood (age 10) or early adulthood (age 18) screening with three LDL-C thresholds when added to standard therapy.
For the simulated population, conventional care would lead to 3 118 000 total lifetime CVD events, with 16 182 (95% uncertainty interval, 15 683-16 827) among individuals with FH. Childhood FH screening might save between 1385 and 1820 CVD events (<0.1% decrease in overall population), whereas early adulthood FH screening could avert between 1154 and 1448 CVD events (<0.1% reduction).
While effective, no FH screening options were cost-effective relative to standard care; screening at age 18 years using an LDL-C threshold of 190 mg/dL or above had the lowest ICER, at $289 700 per QALY gained. If lifelong lipid monitoring with lifestyle treatment increases following a high screening LDL-C result, even for patients with non-FH dyslipidemias, sequential FH screening might become more cost-effective than standard care.
Overall, sequential FH screening beginning in infancy or early adulthood may provide therapeutic advantages when compared to standard therapy, but under normal circumstances, it is not cost-effective.
Source:
Bellows, B. K., Zhang, Y., Ruiz-Negrón, N., Kazi, D. S., Khera, A. V., Woo, J. G., Urbina, E. M., Jacobs, D. R., Jr, Allen, N. B., Wong, J. B., de Ferranti, S. D., & Moran, A. E. (2025). Familial hypercholesterolemia screening in childhood and early adulthood: A cost-effectiveness study: A cost-effectiveness study. JAMA: The Journal of the American Medical Association. https://doi.org/10.1001/jama.2025.20648
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