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Table 1 Clinical data of FH patients and family members

From: The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia

Characteristics 1-I-1 1-I-2 1-II-1 1-II-2 1-III-1 2-II-1 2-II-2 2-II-3 2-III-1
Gender Male Female Male Female Male Male Male Female Female
Age (year) 55 54 41 39 15 51 52 48 27
Triglycerides (mg/dL) 57.59 124.04 101.89 42.53 49.62 170.11 75.31 273.77 96.57
Total cholesterol (mg/dL) 255.54 378.10 558.64 186.34 271.39 477.06 159.28 687.38 379.64
High-density lipoprotein cholesterol (mg/dL) 55.28 76.93 79.25 61.08 74.23 71.91 41.37 89.31 58.76
Low-density lipoprotein cholesterol (mg/dL) 182.09 264.05 412.89 111.73 174.74 388.24 116.75 548.59 300.78
ApoA1 (g/L) 1.41 1.67 0.70 1.46 1.54 / / 0.87 /
ApoB (g/L) 1.32 1.82 2.81 0.83 1.18 / / 2.57 /
Lipoprotein a (mg/dL) 10.00 20.92 15.46 10.71 10.42 / / 12.10 /
Carotid plaque Yes Yes Yes No No / Yes Yes Yes
Carotid stenosis No No Yes No No / No Yes No
Aortic valve Calcification No No Yes No No / No Yes No
Left ventricular ejection fraction (%) 75 72 67 64 71 / 68 59 64
Corneal arch No Yes Yes No No Yes No Yes No
Xanthoma No No Yes No No Yes No Yes No