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Table 5 Characteristics of carriers with more than one FH causing variances

From: Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation

  Double heterozygotesa LDLR compound heterozygotes LDLR true homozygotes p-value
n = 13 n = 16 n = 5
Age, year 46 ± 12 42 ± 14 23 ± 9 0.006
Male, n (%) 6 (46.2%) 10 (62.5%) 2 (40%) 0.580
Xanthoma, n(%) 1 (7.7%) 4 (25%) 4 (80%) 0.011
CAD, n (%) 8 (61.5%) 13 (81.3%) 3 (60%) 0.510
Statin, n(%) 8 (61.5%) 12 (75%) 1 (20%) 0.124
Family history of CAD, n (%) 4 (30.8%) 7 (43.8%) 1 (25%) 0.692
TC, mmol/L 7.19 ± 2.11 8.25 ± 3.77 16.05 ± 2.94 < 0.001
HDL-C, mmol/L 1.1 ± 0.33 0.92 ± 0.19 0.59 ± 0.53 0.028
LDL-C, mmol/L 5.51 ± 1.71 6.51 ± 3.3 12.68 ± 2.94 < 0.001
LDL-C range, mmol/L 3.05–8.86 3.31–15.78 9–15.96  
Untreated LDL-C, mmol/L 6.89 ± 1.12 9.03 ± 3.85 14.34 ± 3.77 < 0.001
Apo A, g/L 1.21 ± 0.25 1.12 ± 0.31 0.45 ± 0.28 0.007
Apo B, g/L 1.59 ± 0.66 1.86 ± 0.91 2.7 ± 0.3 0.199
TG, mmol/L 1.29 (0.99–2.12) 1.49 (1.07–2.08) 0.9 (0.77–1.63) 0.357
  1. Data are expressed as mean ± SD, median (25th–75th percentile), or n (%). Bold values indicate statistical significance
  2. FH familial hypercholesterolemia, CAD coronary artery disease, TC total cholesterol, HDL-C HDL cholesterol, LDL-C LDL cholesterol, apo A apolipoprotein A, apo B apolipoprotein B, TG triglyceride
  3. aa double heterozygote was carriers of LDLR+APOB or LDLR+PCSK9