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

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

	Double heterozygotes^a	LDLR compound heterozygotes	LDLR true homozygotes	p-value
	n = 13	n = 16	n = 5	p-value
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

Data are expressed as mean ± SD, median (25th–75th percentile), or n (%). Bold values indicate statistical significance
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
^aa double heterozygote was carriers of LDLR+APOB or LDLR+PCSK9

ISSN: 1476-511X