Table 1. Characteristics of the study subjects.
| Sitosterolemia | Single mutation carrier | Heterozygous FH | |
|---|---|---|---|
| (n = 4) | (n = 6) | (n = 5) | |
| Age | 18 ± 13 | 31 ± 7 | 32 ± 11 |
| Sex (male/female) | 2/2 | 3/3 | 2/3 |
| BMI (kg/m2) | 23.1 ± 4.1 | 23.9 ± 6.5 | 24.5 ± 4.0 |
| TC (mg/dl) | 241 [226–275] | 223 [189–233] | 289 [284–305] |
| TG (mg/dl) | 201 [132–241] | 99 [91–138] | 101 [94–146] |
| HDL-C (mg/dl) | 50 [47–60] | 57 [50–58] | 49 [46–55] |
| LDL-C (mg/dl) | 154 [150–156] | 105 [89–164] | 221 [220–246] |
| apoB48 (µg/ml) | 5.7 [3.6–7.9] | 2.8 [1.9–3.4] | 1.4 [1.4–2.2] |
| Lathosterol (µg/ml) | 3.0 [2.3–3.6] | 1.5 [1.1–1.6] | 3.8 [2.6–3.8] |
| Campesterol (µg/ml) | 57 [49–70] | 14.9 [13.9–15.5] | 4.6 [3.3–4.9] |
| Sitosterol (µg/ml) | 88.5 [73.6–113.2] | 6.5 [5.1–8.4] | 2.5 [1.9–2.9] |
| RLP-C (mg/dl) | 14.4 [11.8–16.5] | 3.6 [3.7–8.4] | 9.1 [7.2–10.8] |
| RLP-TG (mg/dl) | 41.5 [37.0–82.6] | 14.2 [11.4–40.0] | 12.7 [12.5–54.2] |
FH: familial hypercholesterolemia, BMI: body mass index, TC: total cholesterol, TG: triglyceride, HDL-C: high-density lipoprotein cholesterol, LDL-C: low-density lipoprotein cholesterol, apoB48: apolipoprotein B-48, RLP-C: remnant-like particle cholesterol, RLP-TG: remnant-like particle triglyceride