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 |