Lipids & metabolic liver disease
The Lipoprotein Profile Evaluated by 1H-NMR Improves the Performance of Genetic Testing in Familial Hypercholesterolemia
An erratum to this article was published (J Clin Endocrinol Metab, 18 Dec 2024 ↗)
Authors' conclusion
NMR lipoprotein profile analysis identifies differences beyond standard lipid parameters that help identify FH with a positive pathogenic gene variant, increasing the yield of genetic testing in FH patients.
Study context
- Population
- Clinically definite familial hypercholesterolemia (FH) patients (discovery cohort; 222 (75.5%) with positive genetic testing) and children with FH (validation cohort; 72 (81%) genetically positive); 1H-NMR after lipid-lowering drug washout ≥6 weeksdiscovery cohort
- Participants
- 294 patients
- Comparison
- 1H-NMR lipoprotein-derived formula vs LDL-C levels for identifying genetically positive FH
- Outcome
- Identification of FH patients with pathogenic gene variants (AUC)
Methodological detailsdiscovery cohort with external validation cohort, random forest and logistic regression
- Discovery cohort with external validation cohort
- Random forest and logistic regression
Performance
As reported in the abstract
Identification of genetically positive FH
| Test or model | AUC |
|---|---|
| Nuclear magnetic resonance (NMR) formula | 0.87 |
Nuclear magnetic resonance (NMR) formula
AUC0.87
Further findings
External validation in FH children
- Formula also increases classification of FH children with a pathogenic genetic variation
Original publication
The Lipoprotein Profile Evaluated by 1H-NMR Improves the Performance of Genetic Testing in Familial Hypercholesterolemia. J Clin Endocrinol Metab. Published 23 January 2024. doi:10.
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