Lomitapide cohort (N = 30) | LA cohort (N = 29) | p | |
---|---|---|---|
Geographic origin | |||
European Non-Finnish-Southern European, n (%) | 29 (96.7) | 10 (34.5) | < 0.001 |
Others, n (%)a | 1 (3.3) | 19 (65.5) | |
Demographic | |||
Age, years | 40.0 (27.5–56.5) | 18.0 (10.5–30.5) | < 0.001 |
Male, n (%) | 15 (50.0) | 14.0 (48.3) | NS |
Genotype | |||
Uncertainb | 12 (40.0) | 13 (44.8) | 0.004 |
ARH | 6 (20.0) | 2 (6.9) | |
Defective/defective | 9 (30.0) | 1 (3.4) | |
Null/defective | 1 (3.3) | 1 (3.4) | |
Null/null | 2 (6.7) | 12 (41.4) | |
Xanthomata, n (%) | 26 (86.7) | 27 (93.1) | NS |
Risk factors, n (%) | |||
Smoking | 4 (13.3) | 2 (6.9) | NS |
T2DM | 1 (3.3) | 0 | NS |
HTN | 11 (36.7) | 0 | < 0.001 |
Plasma lipids (mg/dl) | |||
Untreated LDL-Cc | 481.4 ± 153.1 | 794.3 ± 344.2 | 0.01 |
Lowest LDL-C on conventional LLT before LA/Lomitapide | 246.5 (170.3–295.8) | 502.0 (309.5–606.0) | < 0.001 |
Pre-treatment LDL-C burden (mg/dL-year) | 11,463.9 (6751.5–14,468.9) | 7313.5 (4302.1–11,451.3) | 0.034 |
Baseline TC | 357.6 ± 136.5 | 510.1 ± 183.6 | 0.001 |
Baseline HDL-C | 44.7 ± 12.9 | 30.3 ± 9.5 | < 0.001 |
Baseline LDL-C | 272.5 ± 108.8 | 453.0 ± 179.5 | < 0.001 |
Baseline TG | 96.5 (66.8–132.0) | 82.5 (59.8–144.0) | NS |
LLT, n (%) | |||
None | 1 (3.3) | 0 | NS |
LA | 8 (26.7) | 0d | 0.003 |
PCKS9i | 6 (20.0) | 0 | 0.011 |
Statin | 29 (96.7) | 28 (96.6) | NS |
Ezetimibe | 27 (90.0) | 11 (37.9) | < 0.001 |
Fibrate | 1 (3.3) | 2 (6.9) | NS |
Porto-caval shunt | 0 | 2 (6.9) | NS |
Resins | 0 | 9 (31.0) | 0.001 |
Major atherosclerotic cardiovascular events (MACE) | |||
Age at first MACE | 35.0 (30.0–52.5) | 19.0 (14.0–35.0) | 0.003 |
Total MACE, n (%) | 17 (56.7) | 13 (44.8) | NS |
CHD | 15 (50.0) | 9 (31.0) | |
Stroke | 0 | 1 (3.4) | |
PAD | 1 (3.3) | 3 (10.3) | |
Carotid revascularization | 5 (16.7) | 2 (6.9) | |
Aortic valve replacement | 4 (14.3) | 5 (19.2) |