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Table 1 Baseline characteristics of the study population

From: Relations of physical signs to genotype, lipid and inflammatory markers, coronary stenosis or calcification, and outcomes in patients with heterozygous familial hypercholesterolemia

  Propensity matched 1:4
  Total
(n = 250)
TX/CA
(n = 50)
Non-TX/CA
(n = 200)
p value
Demographic parameters
Age, year 47.8 ± 12.6 47.9 ± 13.0 47.7 ± 12.5 0.895
Men, % (n) 62.2 (140) 66.7 (30) 61.1 (110) 0.492
Coronary risk factors
BMI, kg/m2 25.1 ± 3.31 24.9 ± 3.43 25.1 ± 3.29 0.731
HT, % (n) 34.2 (77) 28.9 (13) 35.6 (64) 0.399
DM, % (n) 16.4 (37) 11.1 (5) 17.8 (32) 0.281
HC, % (n) 80.9 (182) 88.9 (40) 78.9 (142) 0.127
Smoking, % (n) 37.8 (85) 35.6 (16) 38.3 (69) 0.731
Family history of CAD, % (n) 37.3 (84) 35.6 (16) 37.8 (68) 0.783
Lipid parameters
TC, mmol/L 7.19 ± 2.24 7.66 ± 2.64 7.06 ± 2.11 0.167
TG, mmol/L 1.51 (1.15–2.13) 1.26 (1.09–1.56) 1.60 (1.22–2.30) 0.001
LDL-C, mmol/L 5.34 ± 1.95 5.94 ± 2.38 5.19 ± 1.80 0.051
Uncontrolled LDL-C, mmol/L 7.90 ± 2.28 8.65 ± 2.53 7.70 ± 2.18  0.025
HDL-C, mmol/L 1.11 ± 0.37 1.00 ± 0.34 1.14 ± 0.37 0.021
NHDL-C, mmol/L 6.04 ± 2.17 6.66 ± 2.69 5.87 ± 1.99 0.072
Apo A1, g/L 1.26 ± 0.33 1.11 ± 0.37 1.30 ± 0.31 0.001
Apo B, g/L 1.46 ± 0.44 1.60 ± 0.57 1.42 ± 0.39 0.064
Lp (a), mg/L 325.1 (169.2–710.4) 394.0 (158.8–668.3) 301.1 (173.6–739.0) 0.792
FFA, mg/dL 0.49 ± 0.46 0.50 ± 0.20 0.49 ± 0.50 0.851
Total cholesterol year score 12,794 ± 5878 13,394 ± 5379 12,646 ± 5997 0.787
LDL cholesterol year score 9549 ± 4605 10,379 ± 4511 9345 ± 4616 0.498
Genetic spectrum     
Definite FH (DLCN score > 8), % (n) 57.6(144) 94.0(47) 48.5(97) < 0.001
Probable FH (DLCN score 6–8), % (n) 42.4(106) 6.0(3) 51.5(103) < 0.001
Mutation positive, % (n) 51.2 (128) 72.0 (36) 38.0 (76) 0.001
LDLR (+) mutation, % (n) 38.8 (97) 66.0 (33) 32.0 (64) < 0.001
1 allele 26.8 (67) 42.0 (21) 23.0 (46) 0.007
2 or more alleles 12.0 (30) 24.0 (12) 9.0 (18) 0.004
LDLR (−) mutation, % (n) 10.8 (27) 6.0 (3) 12.0 (24) 0.221
APOB (+), % (n) 7.2 (18) 4.0 (2) 8.0 (16) 0.328
PCSK9 (+), % (n) 3.6 (9) 2.0 (1) 4.0 (8) 0.497
Double or triple mutation ( +), % (n) 1.6 (4) 0 (0) 2.0 (4) 0.313
Incidence of coronary atherosclerosis
CAD, % (n) 72.0 (180) 78.0 (39) 71.1 (128) 0.132
Diseased vessels, % (n) 62.8 (157) 62.2 (28) 60.6 (109) 0.838
SVD, % (n) 12.4 (31) 6.7 (3) 12.2 (22) 0.289
DVD, % (n) 17.6 (44) 15.6 (7) 20.0 (36) 0.498
MVD, % (n) 32.8 (82) 40.0 (18) 28.3 (51) 0.129
Coronary severity     
Gensini score 28.0 (8.0–56.0) 48.5 (20.0–79.5) 26.5 (6.0–49.8) 0.011
SYNTAX score 9.0 (3.8–17.3) 16.0 (9.8–25.1) 9.0 (2.0–15.0) < 0.001
Jeopardy score 4.0 (1.5–6.0) 5.0 (2.0–6.0) 2.0 (0–5.5) 0.032
In hospital drug treatment
Aspirin, % (n) 71.1 (160) 66.7 (30) 72.2 (130) 0.462
P2Y12 inhibitor, % (n) 21.3 (48) 42.2 (19) 16.1 (29) < 0.001
ACEI/ARB, % (n) 28.0 (63) 28.9 (13) 27.8 (50) 0.882
β-blockers, % (n) 56.0 (126) 53.3 (24) 56.7 (102) 0.687
CCB, % (n) 21.8 (49) 20.0 (9) 22.2 (40) 0.747
Statins, % (n) 82.2 (185) 84.4 (38) 81.7 (147) 0.663
Ezetimibe, % (n) 48.4 (109) 62.2 (28) 45.0 (81) 0.039
  1. Data shown are mean ± SD, median (Q1–Q3 quartiles) or n (%). Bold values indicate statistical significance
  2. FH: familial hypercholesterolemia; TX: tendon xanthomas; CA: corneal arcus; BMI: body mass index; HT: hypertension; DM: diabetes mellitus; HC: hypercholesterolemia; CAD: coronary artery disease; TC: total cholesterol; TG: triglyceride; LDL-C: low density lipoprotein cholesterol; HDL-C: high density lipoprotein cholesterol; NHDL-C: non-high density lipoprotein cholesterol; Apo A1: apolipoprotein A1; Apo B: apolipoprotein B; Lp(a): lipoprotein(a); FFA: free fatty acid; DLCN: Dutch Lipid Clinic Network; LDLR: low-density lipoprotein receptor; APOB: apolipoprotein B; PCSK9: proprotein convertase subtilisin/kexin type 9; SVD: single vessel disease; DVD: double vessels disease; MVD: multiple vessels disease; ACEI: angiotensin converting enzyme inhibitor; ARB: angiotensin receptor blockers; CCB: calcium channel blockers