Table 1

Baseline clinical and biochemical characteristics of the 133 patients with phenotypic familial hypercholesterolaemia

Total*With follow-upWithout follow-up
Number of participants1337756
Age61.4±13.960.8±12.262.4±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, kg81.4±18.582.4±20.179.9±15.8
Body mass index, kg/m2 29.4±7.229.1±6.129.9±8.7
Systolic blood pressure, mm Hg130±16.8128±16.8132±15.2
Diastolic blood pressure, mm Hg75.5±11.374.8±11.276.6±11.4
Personal history of ASCVD58 (43.6)30 (39.0)28 (50.0)
Family history of ASCVD113 (85.0)68 (88.3)45 (80.4)
Tendon xanthomas2 (1.5)2 (2.6)0 (0)
Arcus cornealis11 (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 diabetes9 (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 specialists30 (22.6)21 (27.2)9 (16.1)
On statin115 (86.5)67 (87.0)48 (85.7)
On ezetimibe33 (24.8)68 (24.7)14 (25.0)
Phenotypic DLCNC score7.7±1.97.8±2.17.5±1.7
Triglyceride, mmol/L1.7±0.91.7±0.91.7±1.0
Total cholesterol, mmol/L6.1±2.06.3±2.15.7±1.9
HDL-cholesterol, mmol/L1.4±0.41.4±0.41.5±0.4
LDL-cholesterol, mmol/L3.9±1.94.1±1.93.5±1.8
Non-HDL-cholesterol, mmol/L4.6±1.94.8±1.94.2±1.8
Attainment LDL-cholesterol treatment target†
 By 50% reduction86 (64.7)48 (62.3)38 (67.9)
 By absolute concentration21 (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.