Familial Hypercholesterolemia Screening in Childhood and Early Adulthood: A Cost-Effectiveness Study
Authors' conclusion
Sequential FH screening in childhood or early adulthood could be effective but not cost-effective vs usual care.
Study context
- Population
- Hypothetical cohort of US 10-year-olds (simulated from National Health and Nutrition Examination Survey participants)simulated cohort
- Participants
- 4.2 million participants
- Exposure
- Sequential familial hypercholesterolemia (FH) screening at age 10 or 18 years vs usual care
- Outcome
- Direct health care costs (2021 US dollars), QALYs and ICER (cost-effective if ICER <$100 000 per QALY gained)
- Follow-up
- Lifetime
Methodological detailsdiscrete event simulation model, cardiovascular disease (CVD) Policy Model, health care sector perspective, lifetime horizon, hypothetical cohort, costs and quality-adjusted life-years (QALYs) discounted 3% annually
- Discrete event simulation model
- CVD Policy Model
- Health care sector perspective
- Lifetime horizon
- Hypothetical cohort
- Costs and QALYs discounted 3% annually
Main finding
As reported in the abstract
Cost-effectiveness vs usual care
Lowest incremental cost-effectiveness ratio (ICER): screening at age 18 years with low-density lipoprotein cholesterol (LDL-C) threshold ≥190 mg/dL
$289 700 per QALY gained
Observational data: associations, not effects.
Further findings
| Outcome | Usual care | Childhood FH screening | Early adulthood FH screening | |
|---|---|---|---|---|
| Lifetime CVD events | ||||
| Among those with FH | 16 182 (95% uncertainty interval, 15 683-16 827) | Not reported in the abstract | Not reported in the abstract | Childhood FH screening, Early adulthood FH screening: not reported in the abstract |
- Lifetime CVD events — Childhood FH screening: CVD events averted
- between 1385 and 1820 (<0.1% reduction)
- Lifetime CVD events — Early adulthood FH screening: CVD events averted
- between 1154 and 1448 (<0.1% reduction)
Scenario: increased lifetime lipid monitoring plus lifestyle therapy after high screening LDL-C
- Sequential FH screening could become cost-effective vs usual care
Original publication
Familial Hypercholesterolemia Screening in Childhood and Early Adulthood: A Cost-Effectiveness Study. JAMA. Published 13 January 2026. doi:10.
Summarised from the published abstract; every number is checked against it