Prevention & lipidsCross-sectional study
Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)
- Cross-sectional study
- diagnostic score development
- external validation
Authors' conclusion
Current FH diagnostic criteria perform sub-optimally in children. FH-PeDS and ML-FH-PeDS provide tools to improve FH detection, particularly where genetic testing is limited.
Study context
- Population
- Slovenian and Portuguese paediatric hypercholesterolemia cohorts; Familial hypercholesterolemia (FH)-causing variants as reference standardSlovenian N = 1360
- Exposure
- FH-PeDS and ML-FH-PeDS vs established FH diagnostic criteria
Main finding
As reported in the abstract
AUC for genetically confirmed FH
- FH-PeDS · combined cohort
- AUC 0.897 vs. 0.857; P < 0.01
- ML-FH-PeDS · testing; 0.932 in training
- AUC 0.904 vs. 0.852; P < 0.01
- ML-FH-PeDS · Portuguese cohort (external validation)
- AUC 0.867 vs. 0.815; P < 0.01
Observational data: associations, not effects.
Further findings
| Outcome | FH-PeDS | ML-FH-PeDS | DLCN |
|---|---|---|---|
| ML-FH-PeDS as confirmatory test (testing subgroup) | |||
| Sensitivity | Not reported in the abstract | 39.7% | Not reported in the abstract |
| PPV | Not reported in the abstract | 87.7% | Not reported in the abstract |
| Specificity | Not reported in the abstract | 98% | Not reported in the abstract |
Established criteria in genetically confirmed FH
- Identified by all established criteria
- 47.4%
- Missed entirely
- 10.9%
Original publication
Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS). Eur J Prev Cardiol. Published 20 June 2025. doi:10.1093/eurjpc/zwaf352
Summarised from the published abstract; every number is checked against it