Table 1.
Baseline characteristics of familial hypercholesterolemia (FH) patients.
| Characteristics | Patients with FH | ||||
|---|---|---|---|---|---|
| Overall | Without Mutation |
Benign/Likely Benign Mutation | Pathogenic/Likely Pathogenic Mutation |
p | |
| n | 61 | 38 | 16 | 7 | |
| Age—yo (mean ± SD) | 48.4 ± 12.5 | 50.3 ± 11.6 | 43.4 ± 13.6 | 50.1 ± 13.4 | 0.18 |
| Gender (male) n (%) | 22 (36.1%) | 14 (36.8%) | 5 (31.3%) | 3 (42.9%) | 0.86 |
| Smoker n (%) | 18 (29.5 %) | 12 (31.6%) | 5 (31.3%) | 1(14.3%) | 0.64 |
| High blood pressure n (%) | 31 (50.8 %) | 22 (57.9%) | 6 (37.5%) | 3(42.9%) | 0.35 |
| CHD history n (%) | 13 (21.3%) | 10 (26.3%) | 3 (18.8%) | 0 | 0.06 |
| PAD history n (%) | 9 (14.8%) | 7 (18.4%) | 2 (12.5%) | 0 | |
| CHD + PAD history n (%) | 14 (23%) | 6 (15.8%) | 3 (18.8%) | 5 (71.4%) | |
| Obesity n (%) | 22 (36.1%) | 14(36.8%) | 4 (25%) | 4 (57.4%) | 0.33 |
| Type 2 diabetes n (%) | 8 (13.1%) | 5 (13.2%) | 2 (12.5%) | 1 (14.3%) | 0.99 |
| Physical inactivity n (%) | 30 (49.2%) | 21 (55.3%) | 5 (31.3%) | 4 (57.1%) | 0.25 |
| TC mg/dL (median ± IQR) | 315 ± 56 | 307.5 ± 44 | 320 ± 41 | 353 ± 206 | 0.02 * |
| LDL–C mg/dL (mean ± SD) | 254.2 ± 53 | 246.2 ± 46.2 | 255.4 ± 46.5 | 294.7 ± 85.1 | 0.31 |
| HDL–C mg/dL (median ± IQR) | 45.8 ± 18 | 45 ± 12.3 | 48.5 ± 16.1 | 39 ± 16.2 | 0.28 |
| TG mg/dL (mean ± SD) | 174.4 ± 92 | 179.5 ± 92.2 | 160.6 ± 102.3 | 178.9 ± 74.2 | 0.61 |
| hsCRP mg/L (mean ± SD) | 5.85 ± 2.29 | 5.8 ± 2.2 | 6.3 ± 2.2 | 7.4 ± 2.4 | 0.26 |
| ECG changes n (%) | 25 (41%) | 13 (34.2%) | 7 (43.8%) | 5 (71.4%) | 0.18 |
| EF % (mean ± SD) | 53.2 ± 9.8 | 53.8 ± 9.4 | 54.1 ± 9.6 | 47.6 ± 11.8 | 0.35 |
| ABI (mean ± SD) | 0.96 ± 0.93 | 0.85 ± 0.07 | 0.85 ± 0.08 | 0.77 ± 0.11 | 0.15 |
| cIMT mm (mean ± SD) | 0.95 ± 0.33 | 0.91 ± 0.32 | 0.93 ± 0.36 | 1.21 ± 0.31 | 0.09 |
| Lipid-Lowering Agents | |||||
| Statin n (%) | 22 (36.1%) | 14 (36.8%) | 6 (37.5%) | 2 (28.6%) | 0.41 |
| Statin + ezetimibe n (%) | 18 (29.5%) | 9 (23.7%) | 7 (43.8%) | 2 (28.6%) | |
| Statin + fenofibrate n (%) | 8 (13.1 %) | 7 (18.4%) | 1 (6.3%) | 0 | |
| Statin + ezetimibe + fenofibrate n (%) | 13 (21.3%) | 8 (21.1%) | 2 (12.5%) | 3 (42.9%) | |
| DLCN Score (mean ± SD) | 6.4 ± 2.9 | 5.9 ± 2.5 | 6.2 ± 1.9 | 9.6 ± 4.9 | 0.02 * |
Legend: CHD—coronary heart disease, PAD—peripheral arterial disease, TC—total cholesterol, LDL–C—low-density cholesterol lipoprotein, HDL–C—high-density cholesterol lipoprotein, TG—triglycerides, hsCRP—high-sensitivity C-reactive protein, ECG—electrocardiogram, EF—ejection fraction, ABI—ankle–brachial index, cIMT—carotid intima–media thickness, DLCN—Dutch Lipid Clinic Network, * p < 0.05.