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Table 1 Baseline clinical characteristics of HoFH patients

From: Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey

  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)
  1. Data are represented median (interquartile range) and number (percentage) as appropriate. Pre-treatment LDL-C burden was calculated as: \(\left({LDL-C}_{baseline}*{ Age }_{first LA or Lomitapide prescrption}\right)\)
  2. ARH, Autosomal Recessive Homozygous; T2DM, type 2 diabetes; HTN, hypertension; LLT, Lipid Lowering Therapy; LDL-C, low density lipoprotein cholesterol; TC, total cholesterol; HDL-C, high density lipoprotein cholesterol; TG, triglycerides; BMI, body mass index; HTN, hypertension; T2DM, type 2 diabetes; LA, Liporprotein apheresis; PCKS9i, Proprotein convertase subtilisin/kexin type 9 inhibitors; MACE, Major Atherosclerotic Cardiovascular Events; CHD, coronary heart disease; PAD, peripheral artery disease; NS, not significant
  3. a1 patient from Africa, 9 from North-Africa, 1 from central-eastern Europe, 1 from Antille, 3 from South Asia and 3 from Turkey (for one patient the information on ethnicity was not available)
  4. bThe genotype was defined as uncertain if molecular diagnosis was not available or the molecular testing indicated the presence of variants of uncertain significance (VUS)
  5. cUntreated LDL-C values were available for 21 and 12 subjects in the Lomitapide and LA cohort, respectively
  6. dLA was started at this visit