Reclassification of clinical diagnosis of familial hypercholesterolemia after genetic testing
| Diagnosis with partial MSSS FH panel | Diagnosis with full FH panel, no. (%) of patients | Total (partial FH panel); no. (%) of patients | ||
|---|---|---|---|---|
| Severehyperc holesterolemia | Probable FH | Definite FH | ||
| Severe hypercholesterolemia | 9 (3.9) | 0 (0.0) | 2 (0.9) | 11 (4.8) |
| Probable FH | 0 (0.0) | 44 (19.2) | 54 (23.6) | 98 (42.8) |
| Definite FH | 0 (0.0) | 0 (0.0) | 120 (52.4) | 120 (52.4) |
| Total (full FH panel) | 9 (3.9) | 44 (19.2) | 176 (76.9) | 229 (100.0) |
Note: FH = familial hypercholesterolemia, MSSS = Ministère de la Santé et des Services sociaux (Ministry of Health and Social Services).