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Table 1 Demographic and clinical characteristics of all subjects in the discovery cohort

From: Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia

 

HoFH (n = 184)

HeFH (n = 376)

non-FH (n = 100)

P value

Ages

20.7 ± 14.3

22.7 ± 11.2

20.0 ± 11.9

0.34

Male sex, n (%)

93 (50.1%)

185 (49.2%)

53 (53%)

0.79

Hypertension, n (%)

6 (3.3%)

11 (2.9%)

2 (2%)

0.83

Diabetes mellitus, n (%)

1 (0.5%)

4 (1.1%)

1 (1%)

0.83

Current smokers, n (%)

1 (0.5%)

9 (2.4%)

2 (2%)

0.30

ASCVD history, n (%)

25 (13.6%)

11 (2.9%)a

0 (0.0%)b

 < 0.0001

Current corneal arcus, n (%)

80 (43.5%)

0 (0.0%)a

0 (0.0%)b

 < 0.0001

Current xanthomas, n (%)

89 (48.4%)

9 (2.4%)a

0 (0.0%)b

 < 0.0001

SVAS, n (%)

40 (21.7%)

0 (0.0%)a

0 (0.0%)b

 < 0.0001

Calcific VAS, n (%)

38 (20.7%)

0 (0.0%)a

0 (0.0%)b

 < 0.0001

LLT, n (%)

165 (89.7%)

264 (70.2%)a

37 (37%)b

 < 0.0001

LDL-C, mmol/L

13.41 ± 5.10

4.94 ± 1.52a

2.15 ± 0.32b

 < 0.0001

TC, mmol/L

15.95 ± 5.21

6.89 ± 1.67a

3.86 ± 0.52b

 < 0.0001

TG, mmol/L

0.98 [0.71, 1.38]

1.27 [0.83, 1.86]a

0.72 [0.56, 0.89]b

 < 0.0001

HDL-C, mmol/L

0.93 ± 0.32

1.41 ± 0.48a

1.49 ± 0.24b

 < 0.0001

Non-HDL, mmol/L

15.02 ± 5.28

5.43 ± 1.81a

2.49 ± 0.31b

 < 0.0001

APOB, g/L

2.55 ± 0.68

1.49 ± 0.44a

0.98 ± 0.27b

 < 0.0001

APOA1, g/L

0.82 ± 0.27

1.24 ± 0.25a

1.32 ± 0.34b

 < 0.0001

LP(a), mg/dL

41.0 [21.3, 73.8]

17.3 [6.0, 20.4]a

8.9 [5.3, 17.6]b

 < 0.0001

  1. Continuous data are presented as mean ± standard deviation or median [interquartile range], and categorical variables are presented as %. ANOVA and consequent post hoc test were used for continuous data. The chi-square test was used for categorical data
  2. CVD cardiovascular disease, LDL-C low-density lipoprotein cholesterol, TC total cholesterol, TG triglycerides, HDL-C high-density lipoprotein cholesterol, APOB apolipoprotein B, APOA1 apolipoprotein A1, Lp(a) lipoprotein (a), LLT lipid-lowering therapy, SVAS supravalvular aortic stenosis, VAS valvular aortic stenosis, HoFH homozygous familial hypercholesterolemia, HeFH heterozygous familial hypercholesterolemia, Non-FH non-familial hypercholesterolemia
  3. aP value < 0.05 in the comparison of HeFH and HoFH
  4. bP value < 0.05 in the comparison of non-FH and HoFH