Prevention & lipidsDiagnostic or prognostic study
Clinical scores fail to sufficiently identify children with familial hypercholesterolaemia
- Diagnostic accuracy study
- Clinical data gathered by self-reporting questionnaire
Authors' conclusion
Clinical FH scores offer a high degree of specificity for FH diagnosis in children, but at the expense of low sensitivity.
Study context
- Population
- Children with elevated LDL-C211 with pathogenic familial hypercholesterolaemia (FH) mutation
- Participants
- 1,337 children
- Comparison
- Clinical FH scores vs genetic testing
- Outcome
- Sensitivity and specificity of clinical scores for genetically confirmed FH
Performance
As reported in the abstract
Diagnostic performance of clinical scores (range across SB, MP, GL-EAS)
| Test or model | Value | Clinical FH |
|---|---|---|
| Simon Broome (SB) | 210/1337 | 210/1337 |
| MEDPED (MP) | 125/1337 | 125/1337 |
| GL-EAS | 112/835 | 112/835 |
- Sensitivity of clinical scores (range)
- 0.44 to 0.54
- PPV (range)
- 0.51-0.79
- Specificity (range)
- 0.91-0.97
- NPV (range)
- 0.89-0.91
Further findings
Diagnostic performance by gender, age (<10 vs ≥10 years) or weight (≥90th vs <90th BMI percentile) (subgroups)
- Similar sensitivity, specificity, PPV and NPV for the three clinical scores
Original publication
Clinical scores fail to sufficiently identify children with familial hypercholesterolaemia. Eur J Prev Cardiol. Published 9 July 2025. doi:10.1093/eurjpc/zwaf301
Summarised from the published abstract; every number is checked against it