Table 1.
Baseline clinical and biochemical characteristics of the 133 patients with phenotypic familial hypercholesterolaemia
| Total* | With follow-up | Without follow-up | |
| Number of participants | 133 | 77 | 56 |
| Age | 61.4±13.9 | 60.8±12.2 | 62.4±15.9 |
| Male gender, n (%) | 51 (38.3) | 32 (41.6) | 19 (33.9) |
| Caucasian ethnicity, n (%) | 125 (93.9) | 71 (92.2) | 54 (96.4) |
| Weight, kg | 81.4±18.5 | 82.4±20.1 | 79.9±15.8 |
| Body mass index, kg/m2 | 29.4±7.2 | 29.1±6.1 | 29.9±8.7 |
| Systolic blood pressure, mm Hg | 130±16.8 | 128±16.8 | 132±15.2 |
| Diastolic blood pressure, mm Hg | 75.5±11.3 | 74.8±11.2 | 76.6±11.4 |
| Personal history of ASCVD | 58 (43.6) | 30 (39.0) | 28 (50.0) |
| Family history of ASCVD | 113 (85.0) | 68 (88.3) | 45 (80.4) |
| Tendon xanthomas | 2 (1.5) | 2 (2.6) | 0 (0) |
| Arcus cornealis | 11 (8.3) | 9 (11.7) | 2 (3.6) |
| Smoking (19 current and 52 ex-smokers) | 71 (53.4) | 43 (55.8) | 28 (50.0) |
| Type 2 diabetes | 9 (6.8) | 6 (7.8) | 3 (5.4) |
| Obesity (body mass index >30 kg/m2) | 42 (31.5) | 24 (31.2) | 18 (32.1) |
| Shared care with specialists | 30 (22.6) | 21 (27.2) | 9 (16.1) |
| On statin | 115 (86.5) | 67 (87.0) | 48 (85.7) |
| On ezetimibe | 33 (24.8) | 68 (24.7) | 14 (25.0) |
| Phenotypic DLCNC score | 7.7±1.9 | 7.8±2.1 | 7.5±1.7 |
| Triglyceride, mmol/L | 1.7±0.9 | 1.7±0.9 | 1.7±1.0 |
| Total cholesterol, mmol/L | 6.1±2.0 | 6.3±2.1 | 5.7±1.9 |
| HDL-cholesterol, mmol/L | 1.4±0.4 | 1.4±0.4 | 1.5±0.4 |
| LDL-cholesterol, mmol/L | 3.9±1.9 | 4.1±1.9 | 3.5±1.8 |
| Non-HDL-cholesterol, mmol/L | 4.6±1.9 | 4.8±1.9 | 4.2±1.8 |
| Attainment LDL-cholesterol treatment target† | |||
| By 50% reduction | 86 (64.7) | 48 (62.3) | 38 (67.9) |
| By absolute concentration | 21 (15.9) | 9 (11.7) | 12 (21.4) |
Values represented as mean±SD or number (%).
*There were no significant differences in clinical and biochemical variables between the two groups at recruitment; p>0.05 for all.
†Target absolute value of LDL-cholesterol refers to an absolute level of LDL-cholesterol (ie, <2.6 mmol/L or <1.8 mmol/L for primary and secondary prevention.18
ASCVD, atherosclerotic cardiovascular disease; DLCNC, Dutch Lipid Clinic Network Criteria; HDL, high-density lipoprotein; LDL, low-density lipoprotein.