Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis

Table 1 Baseline characteristics of the study population

Variable	Study population’s characteristics
Sex, n (%)
Female	28 (40.6)
Male	41 (59.4)
Age at diagnosis (yr), mean ± SD	45 ± 17
Age (yr), mean ± SD	50 ± 17
BMI (kg/m2), mean ± SD	26.4 ± 4.5
Waist circumference (cm), mean ± SD	94 ± 13
Arterial hypertension, n (%)	24 (34.8)
Type 2 DM, n (%)	14 (20.3)
Dyslipidaemia, n (%)	27 (39.1)
Obesity, n (%)	15 (21.7)
Metabolic syndrome, n (%)	22 (31.9)
Regular alcohol intake, n (%)	29 (42.0)
Smoking habits, n (%)
Non-smoker	46 (66.7)
Smoker	7 (10.1)
Ex-smoker	16 (23.2)
AAT clinical presentation, n (%)
Respiratory	40 (58.0)
Hepatic	17 (24.6)
Screening	12 (17.4)
AAT value at diagnosis (mg/dL), median	67
AAT phenotype, n (%)
MZ	34 (49.3)
SZ	14 (20.3)
ZZ	7 (10.1)
SS	6 (8.7)
MS	4 (5.8)
MMHeerlen	2 (2.9)
SMHeerlen	2 (2.9)
FEV1 (%), mean ± SD	94 ± 29
DLCO, mL of CO/s/mmHg, median	92

BMI: Body mass index; DM: Diabetes mellitus; AAT: Alpha-1 antitrypsin; FEV1: Forced expiratory volume in the first second; DLCO: Diffusing capacity of the lungs for carbon monoxide.

Table 2 Factors associated with a nonalcoholic fatty liver disease fibrosis score value that does not exclude advanced fibrosis

Variable	Excluding advanced fibrosis (NFS < -1.455), n = 49	Not excluding advanced fibrosis (NFS ≥ -1.455), n = 19	P value	OR	95%CI
Sex, n (%)			0.232	0.523	0.179-1.526
Female	18 (36.7)	10 (52.6)
Male	31 (63.3)	9 (47.4)
Age at diagnosis (yr), mean ± SD	39 ± 16	57 ± 11	< 0.001a	-	-
Age (yr), median	46	64	< 0.001a	-	-
BMI (kg/m2), mean ± SD	26.1 ± 4.4	27.1 ± 4.9	0.409	-	-
Waist circumference (cm), median	94	99	0.235	-	-
Arterial hypertension, n (%)			< 0.001a	16.667	4.457-62.318
Yes	9 (18.4)	15 (78.9)
No	40 (81.6)	4 (21.1)
Type 2 DM, n (%)			0.002a	7.920	2.178-28.799
Yes	5 (10.2)	9 (47.4)
No	44 (89.8)	10 (52.6)
Dyslipidaemia, n (%)			0.008a	4.286	1.399-13.127
Yes	14 (28.6)	12 (63.2)
No	35 (71.4)	7 (36.8)
Obesity, n (%)			0.329	2.051	0.613-6.863
Yes	9 (18.4)	6 (31.6)
No	40 (81.6)	13 (68.4)
Metabolic syndrome, n (%)			< 0.001a	6.686	2.091-21.382
Yes	10 (20.4)	12 (63.2)
No	39 (79.6)	7 (36.8)
Regular alcohol intake, n (%)			0.033a	3.227	1.072-9.716
Yes	17 (34.7)	12 (63.2)
No	32 (65.3)	7 (36.8)
AAT value at diagnosis (mg/dL), median	71	56	0.025a	-	-
FEV1 (%), mean ± SD	95 ± 27	93 ± 34	0.801	-	-
DLCO, mL of CO/s/mmHg, median	95	88	0.225	-	-

^aP < 0.05.

NFS: Nonalcoholic fatty liver disease fibrosis score; OR: Odds ratio; CI: Confidence interval; BMI: Body mass index; DM: Diabetes mellitus; AAT: Alpha-1 antitrypsin; FEV1: Forced expiratory volume in the first second; DLCO: Diffusing capacity of the lungs for carbon monoxide.

Table 3 Factors associated with fibrosis-4 values indicative of mild or moderate to severe fibrosis

Variable	Mild fibrosis (FIB-4 < 1.45), n = 50	Moderate to severe fibrosis (FIB-4 ≥ 1.45), n = 19	P value	OR	95%CI
Sex, n (%)			0.479	0.681	0.234-1.978
Female	19 (38.0)	9 (47.4)
Male	31 (62.0)	10 (52.6)
Age at diagnosis (yr), mean ± SD	40 ± 16	56 ± 11	< 0.001a	-	-
Age (yr), mean ± SD	45 ± 16	63 ± 11	< 0.001a	-	-
BMI (kg/m2), mean ± SD	26.5 ± 4.4	26.2 ± 4.9	0.800	-	-
Waist circumference (cm), mean ± SD	94 ± 12	93 ± 14	0.898	-	-
Arterial hypertension, n (%)			0.002a	5.429	1.743-16.903
Yes	12 (24.0)	12 (63.2)
No	38 (76.0)	7 (36.8)
Type 2 DM, n (%)			0.508	1.627	0.466-5.680
Yes	9 (18.0)	5 (26.3)
No	41 (82.0)	14 (73.7)
Dyslipidaemia, n (%)			0.387	1.600	0.549-4.664
Yes	18 (36.0)	9 (47.4)
No	32 (64.0)	10 (52.6)
Obesity, n (%)			1.000	0.945	0.260-3.435
Yes	11 (22.0)	4 (21.1)
No	39 (78.0)	15 (78.9)
Metabolic syndrome, n (%)			0.586	1.361	0.448-4.135
Yes	15 (30.0)	7 (36.8)
No	35 (70.0)	12 (63.2)
Regular alcohol intake, n (%)			0.028a	3.328	1.107-10.003
Yes	17 (34.0)	12 (63.2)
No	33 (66.0)	7 (36.8)
AAT value at diagnosis (mg/dL), median	71	58	0.060	-	-
FEV1 (%), mean ± SD	94 ± 27	94 ± 36	0.944	-	-
DLCO, mL of CO/s/mmHg, median	94	88	0.325	-	-

^aP < 0.05.

FIB-4: Fibrosis-4 index; OR: Odds ratio; CI: Confidence interval; BMI: Body mass index; DM: Diabetes mellitus; AAT: Alpha-1 antitrypsin; FEV1: Forced expiratory volume in the first second; DLCO: Diffusing capacity of the lungs for carbon monoxide.