TABLE 2.
Medical therapies.
| Lipid-lowering therapy | All | Without pathogenic variants | With missense variants | With PTVs |
|---|---|---|---|---|
| (N = 1,050) | (N = 385) | (N = 277) | (N = 388) | |
| Statins (%) | 1,025 (97.6%) | 380 (98.7%) | 265 (95.7%) | 380 (97.9%) |
| Ezetimibe (%) | 644 (61.3%) | 198 (51.4%) | 160 (57.8%) | 286 (73.7%) |
| Colestimide (%) | 243 (23.1%) | 30 (7.8%) | 70 (25.3%) | 143 (36.9%) |
| Probucol (%) | 2 (0.2%) | 0 (0.0%) | 1 (0.4%) | 1 (0.3%) |
| PCSK9 inhibitor (%) | 45 (4.3%) | 3 (0.8%) | 13 (4.7%) | 29 (7.5%) |
| LDL apheresis (%) | 2 (0.2%) | 0 (0.0%) | 0 (0.0%) | 2 (0.5%) |
| Fibrates (%) | 6 (0.6%) | 3 (0.8%) | 2 (0.7%) | 1 (0.3%) |
| n-3 PUFAs (%) | 10 (1.0%) | 5 (1.3%) | 1 (0.4%) | 4 (1.0%) |
PTV, protein-truncating variants; PCSK9, proprotein convertase subtilisin/kexin type 9; PUFA, polyunsaturated fatty acid; LDL, low-density lipoprotein.