Familial Hypercholesterolemia Screening in Childhood and Early Adulthood

JAMAPublished 13 Jan 2026

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

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.

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

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

Familial Hypercholesterolemia Screening in Childhood and Early Adulthood. JAMA. Published 13 January 2026. doi:10.1001/jama.2025.20648

Summarised from the published abstract; every number is checked against it