LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening
Authors' conclusion
Cholesterol-based screening approaches for FH only seem feasible from 1 year of age onward.
Study context
- Population
- Newborns and children 1–12 years in the Norwegian national familial hypercholesterolaemia (FH) family cascade screening programme, 1998–2023113 newborns
- Exposure
- FH vs non-FH children
- Outcome
- Cholesterol-based (LDL-C) screening efficacy for FH
Methodological detailsnational family cascade screening programme
- National family cascade screening programme
Main finding
As reported in the abstract
LDL-C in newborns (umbilical cord)
| Group | Value | Detected by 95th percentile cut-off | Detected by 85th percentile cut-off |
|---|---|---|---|
| FH | 1.22 (not stated .48) mmol/L | 55.7% | 75.4% |
| non-FH | .68 (not stated .32) mmol/L |
Value
FH1.22 (not stated .48) mmol/L
non-FH.68 (not stated .32) mmol/L
Detected by 95th percentile cut-off
FH55.7%
non-FHNot reported in the abstract
Detected by 85th percentile cut-off
FH75.4%
non-FHNot reported in the abstract
- FH vs non-FH: P < 0.001 — overlapped widely
Observational data: associations, not effects.
Further findings
| Outcome | FH | non-FH | |
|---|---|---|---|
| LDL-C screening in children 1-12 years | |||
| Detected by 95th percentile cut-off | 88.4% | Not reported in the abstract | non-FH: not reported in the abstract |
| Detected by 85th percentile cut-off | 94.1% | Not reported in the abstract | non-FH: not reported in the abstract |
Screening efficacy in newborns by subgroup (sex, null vs non-null variant, variant gene; total and non-HDL cholesterol)
- Did not differ in subgroups
LDL-C screening in children 1-12 years
- LDL-C discriminated highly between FH and non-FH children
Original publication
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening. Eur Heart J. Published 23 October 2025. doi:10.
Summarised from the published abstract; every number is checked against it