Table 3.
The Mutation Detection Rate comparing different methods and the prediction of clinical score in the diagnosis of FH.
| Clinical Criteria | HeFH Diagnosis | Sensitivity | Specificity | Mutation Detection Rate |
|---|---|---|---|---|
| European Atherosclerosis Society (EAS) | Highly probable | 90.9% | 6.3% | 90.9% |
| Simon Broome Register (SBR) | Possible or definite | 90.2% | 6.3% | 90.8% |
| Definite | 4.3% | 100% | 100% | |
| LIPIGEN-FH-PED | Possible or probable or definite ≥ 3 | 100% | 0% | 91.1% |
| Probable or definite ≥ 6 | 90.9% | 6.3% | 90.9% | |
| Definite > 8 | 41.5% | 87.5% | 97.1% | |
| Dutch Lipid Clinic Network (DLCN) | Possible or probable or definite ≥ 3 | 84.1% | 37.5% | 93.2% |
| Probable or definite ≥ 6 | 47.0% | 93.8% | 98.7% | |
| Definite > 8 | 5.5% | 100% | 100% | |
| Present Study Criteria | 91.1% |