Table 2 Baseline clinical characteristics of 84 HoFH patients enrolled from the discovery cohort

Ages

25.6 ± 11.5

24.1 ± 12.3

27.9 ± 9.8

0.13

Male sex, n (%)

43 (53.1%)

27 (52.9%)

16 (48.5%)

0.16

BMI, kg/m²

20.6 ± 1.8

20.3 ± 1.9

21.1 ± 1.4

0.08

Hypertension, n (%)

4 (4.8%)

3 (5.9%)

1 (3%)

0.55

Diabetes mellitus, n (%)

0 (0%)

0 (0%)

0 (0%)

Active smoking, n (%)

0 (0%)

0 (0%)

0 (0%)

At least one null LDLR, n (%)

52 (61.9%)

27 (52.9%)

25 (75.8%)

0.04

True HoFH, n (%)

26 (31%)

17 (33.3%)

9 (27.3%)

0.56

Xanthomas, n (%)

45 (53.6%)

25 (49%)

20 (60.6%)

0.3

Corneal arcus, n (%)

39 (46.4%)

20 (39.2%)

19 (57.6%)

0.1

Clinical lipid profiles

 Baseline LDL-C, mmol/L

13.03 ± 4.13

12.94 ± 4.45

13.17 ± 3.63

0.82

 Baseline TC, mmol/L

15.53 ± 4.50

15.61 ± 5.01

15.41 ± 3.62

0.84

 Baseline TG, mmol/L

0.92 [0.70, 1.49]

0.86 [0.67, 1.42]

1.1 [0.75, 1.55]

0.46

 Baseline HDL, mmol/L

0.82 [0.61, 1.12]

0.99 [0.72, 1.31]

0.7 [0.47, 0.89]

0.001

 Baseline Lp(a), mg/dL

47.3 [28.5, 81]

40.9 [25.8, 56]

72.1 [46.3, 95]

0.001

 Baseline APOA1, g/L

0.79 ± 0.26

0.85 ± 0.23

0.72 ± 0.26

0.01

 Baseline APOB, g/L

2.5 ± 0.73

2.45 ± 0.73

2.57 ± 0.75

0.73

 LDL-C at last visit, mmol/L

10.47 ± 2.97

10.21 ± 3.27

10.89 ± 2.41

0. 31

 Mean LDL-C at follow-up, mmol/L

10.78 ± 2.79

10.41 ± 3.02

11.37 ± 2.33

0.12

 LDL-C year score, mmol/L-year

359.2 [235.2, 511.7]

296.4 [212.9, 462.7]

448 [302.8, 556.1]

0.07

LLT status

 Ages at initiation of LLT

12.3 ± 7.9

11.9 ± 8.6

12.7 ± 6.7

0.66

 Statin + Probucol, n (%)

6 (7.1%)

4 (7.8%)

2 (6.1%)

0.76

 Stain + Ezetimibe, n (%)

75 (89.3%)

43 (84.3%)

32 (97.0%)

0.067

 Stain + Ezetimibe + PCSK9 inhibitor, n (%)

3 (3.6%)

2 (3.9%)

1 (3.0%)

0.83