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Table 4 Characteristics of index cases with FH according to the genotype

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

Variables Mutation (−) (n = 137) Mutation (+)
(n = 112)
p-value
LDLR null
heterozygote (n = 25)
LDLR defective heterozygote (n = 52) APOB/PCSK9
mutation (n = 37)
Age, year 51 ± 10 50 ± 12 47 ± 14 47 ± 14 0.099
Male, n (%) 89 (65%) 16 (64%) 30 (57.7%) 20 (54.1%) 0.584
Xanthoma, n (%) 5 (3.6%) 1 (4%) 11 (21.2%) 2 (5.4%) 0.001
CAD, n (%) 114 (83.8%) 21 (84%) 42 (80.8%) 32 (86.5%) 0.911
Family history of CAD, n (%) 62 (45.6%) 12 (48%) 23 (46%) 15 (40.5%) 0.935
Statin, n (%) 123 (89.8%) 17 (68%) 38 (73.1%) 32 (86.5%) 0.005
TC, mmol/L 6.51 ± 1.97 7.88 ± 1.55 7.14 ± 2.35 6.46 ± 2.06 0.007
HDL-C, mmol/L 1.15 ± 0.3 1.05 ± 0.29 1.05 ± 0.35 1.09 ± 0.33 0.138
LDL-C, mmol/L 4.63 ± 1.5 6.22 ± 1.48 5.47 ± 2.03 4.7 ± 1.5 < 0.001
Untreated LDL-C, mmol/L 7.5 ± 1.82 8.88 ± 1.82 7.94 ± 2.13 7.39 ± 1.56 0.004
Apo A, g/L 1.4 ± 0.34 1.2 ± 0.26 1.23 ± 0.27 1.35 ± 0.34 0.002
Apo B, g/L 1.37 ± 0.38 1.64 ± 0.37 1.55 ± 0.52 1.35 ± 0.41 0.003
TG, mmol/L 1.72 (1.26–2.28) 1.45 (1.18–1.88) 1.59 (1.07–1.88) 1.78 (1.51–2.14) 0.032
  1. Data are expressed as mean ± SD, median (25th–75th percentile) or n (%). Bold values indicate statistical significance
  2. FH familial hypercholesterolemia, LDLR low-density lipoprotein receptor, APOB apolipoprotein B, PCSK9 proprotein convertase subtilisin/Kexin type 9, 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