North American Familial Chylomicronemia Score (NAFCS)
Facilitates familial chylomicronemia syndrome (FCS) diagnosis.
This score has several important disclaimers:
- Derived by expert consensus using the RAND/UCLA modified Delphi panel method; the validation study examined a single lipid-clinic registry in Ontario.
- No prospective, multi-centre, or ethnically diverse external validation data are available.
- The study was conducted by ADVI, a research consultancy, under a contract funded by Ionis Pharmaceuticals; most authors report consulting fees/honoraria or research grants from multiple pharmaceutical companies (e.g., Ionis, Akcea, Regeneron, Novartis, Amgen, Pfizer, Sanofi).
Advice
- Use the results of this tool alongside clinical judgment and, where possible, lipid or genetics-specialist expertise; it should not be the sole determinant of diagnosis or management.
- A high score is highly specific but not diagnostic.
- Results may direct when to perform genetic testing (i.e., scores ≥30-44) and when to initiate FCS-specific therapy while awaiting genetic testing results (i.e., scores ≥60).