Italian Registry of Patients with Alpha-1 Antitrypsin Deficiency: General Data and Quality of Life Evaluation

Figures & data

Table 1.  Clinical characteristics of patients with severe α1-antitrypsin deficiency (AATD), index and non-index cases

	Total [n = 422]	Index [n = 297]	Non-Index [n = 125]	p-value
AGE (years) mean (SD)	48.2 (14.9)	50.4 (14.0)	43.1 (15.8)	<0.0001
BMI (kg/m^2) median (95%CI)	23.6 (23.1-24.1)	23.7 (23.0–24.3)	23.4 (22.7–24.2)
Gender
Male, N (%)	217 (52.5)	180 (60.6)	37 (29.6)	<0.0001
Smoking Habits
Current	48 (11.4)	29 (9.8)	19 (15.2)
Former	191 (45.3)	157 (52.3)	34 (27.2)	<0.0001
Never	174 (41.2)	105 (35.3)	69 (55.2)	0.0002
Missing data	9 (0.2)	6 (0.2)	3 (0.2)
Pack/years, median (95%CI)	15.7 (13.8–19.4)	19.5 (15.1–20.0)	8.0 (3.7–12.0)	<0.0001
Occupational Exposure N (%)	42 (10.0)	35 (11.8)	7 (5.6)
Retired from work	62 (14.7)	52 (17.6)	10 (8.0)	0.02
housekeeper	37 (8.8)	22 (11.2)	15 (12.0)
AATD Diagnosis
Reason N (%)
Lung disease	255 (60.4)	255 (85.9)	–
Liver disease	34 (8.1)	34 (11.4)	–
Family screening	86 (20.4)	–	86 (68.8)
Other	47 (11.1)	8 (2.7)	39 (31.2)
Genotype N (%)
ZZ	258 (61.1)	197 (66.3)	61 (48.8)	0.001
SZ	74 (17.5)	42 (14.1)	32 (25.6)	0.007
Other	90 (21.3)	58 (19.5)	32 (25.6)
Symptom N (%)
Dyspnoea	182 (43.1)	158 (53.2)	24 (19.2)	<0.000
Cough	33 (7.8)	27 (9.1)	6 (4.8)	1
Other	14 (3.3)	12 (4.0)	2 (1.6)
Asymptomatic	81 (19.2)	9 (3.5)	72 (57.6)	<0.0001
Symptoms Onset Age(years) mean (SD)	43.3 (13.6)	43.1 (13.5)	45.6 (14.3)	0.05
Diagnosis Delay (years), mean (SD)	8.1 (7.3))	8.5 (7.5)	5.1 (3.6)
Lung Disease N (%)	279 (66.1)	243 (81.8)	35 (28.0)
Chronic bronchitis	34 (12.5)	27 (9.0)	6 (4.8)
Emphysema	171 (62.9)	156 (52.5)	15 (12.0)	<0.0001
Asthma	21 (7.7)	16 (5.4)	5 (4.0)
Bronchiectasis	4 (0.9)	3 (1.0)	1 (0.8)
COPD*	39 (9.2)	32 (10.8)	7 (5.6)
Other	10 (2.4)	9 (3.0)	1 (0.8)
Liver Disease N (%)	72 (17.1)	62 (20.9)	10 (8.0)
Cirrhosis	28 (6.6)	27 (9.1)	1 (0.8)
Hepatitis	12 (2.8)	10 (3.4)	2 (1.6)
History of Pneumonia N (%)	85 (20.1)	68 (22.3)	17 (13.6)	0.0001
Respiratory Medication N (%)	195 (46.3)	176 (64.0)	19 (14.8)	<0.0001
Oxygen Therapy N (%)	51 (12.1)	49 (16.5)	2 (1.6)	<0.0001
Augmentation Therapy N (%)	119 (28.2)	111 (37.4)	8 (6.4)	<0.0001
Age at First Treatment (years), mean (SD)	53.2 (11.0)	53.2 (11.0)	52.7 (11.9)	1
Pulmonary Function Tests	[n = 392]	[n = 280]	[n = 112]
FEV1 (% predicted), median (95%CI)	67.5 (60.0–81.8)	51.0 (46.0–57.8)	106.0 (102.2–110-0)	<0.0001
FVC (% predicted), median (95%CI)	98.0 (94.0–101.0)	90.0 (85.0–94.0)	112.5 (107.0–118.5)	<0.0001
FEV1/FVC (%),median (95%CI)	0.75 (0.68–0.83)	0.62 (0.57–0.66)	0.95 (0.92–0.98)	<0.0001
SGRQ mean (SD)	[n = 52]	[n = 35]	[n = 17]
29.8 (26.3)	41.2 (24.4)	6.3 (8.3)	<0.0001

*Referred by physician.

Table 2.  Clinical characteristics of patients with severe α1-antitrypsin deficiency (AATD) and lung disease, stratified according to the treatment with augmentation therapy (a.u.)

	Treated with a.u. [n = 119]	Never treated with a.u. [n = 176]	p-value
Age at Diagnosis (years) mean (SD)	52.1 (10.9)	51.8 (14.3)
Age at Treatment(years) mean (SD)	53.2 (11.0)	-
BMI (kg/m^2) median (95%CI)	24.5 (23.4–25.0)	23.1 (22.5–24.1)
Gender
Male, N (%)	70 (58.8)	97 (55.1)	0.03
Smoking Habits
Current	9 (7.5)	21 (11.9)
Former	81 (68.1)	80 (45.4)	0.04
Never	29 (24.4)	70 (39.8)	0.009
Missing data		5 (2.8)
Pack-years, median (95%CI)	21.0 (17.3–24.3)	18 (15.0–20.0)	0.05
Occupational exposure N (%)	18 (15.1)	17 (9.7)
Retired from work	23 (19.3)	31 (17.6)
housekeeper	11 (9.2)	15 (8.5)
Genotype N (%)
ZZ	84 (70.6)	120 (68.2)
SZ	7 (5.9)	29 (16.5)	0.01
Other	27 (22.7)	27 (15.3)
Symptom N (%)
Dyspnoea	94 (79.0)	82 (46.6)	<0.0001
Cough	14 (11.8)	17 (9.7)
Liver Disease	10 (8.4)	13 (7.6)
Liver Enzyme	23 (19.3)	27 (15.3)
Symptoms Onset Age (years) mean (SD)	44.5 (11.3)	43.8 (14.5)
Diagnosis Delay (years), mean (SD)	7.00 (5.1–9.0)	6.5 (3.5–9.0)
Lung Disease N (%)
Chronic bronchitis	10 (8.4)	24 (13.6)
Emphysema	83 (69.7)	88 (50.0)	0.001
Panlobular emphysema	38 (31.9)	41 (23.3)
Centrolobular emphysema	21 (17.6)	11 (6.2)	0.004
Bullous emphysema	16 (13.4)	25 (14.2)
Asthma	2 (1.7)	19 (10.8)	0.006
Bronchiectasis	1 (0.8)	3 (1.7)
COPD stage I	-	2 (1.1)
Stage II	23 (19.3)	19 (10.8)
Stage III	42 (35.3)	33 (18.7)	0.002
Stage IV	33 (27.7)	27 (15.3)	0.0007
Pneumonia N (%)	40 (33.6)	35 (19.9)	0.02
Respiratory Medication N (%)	99 (83.2)	85 (48.3)	<0.0001
Oxygen Therapy N (%)	33 (27.7)	18 (10.2)	0.0002
Pulmonary Function Tests	[n = 117]	[n = 161]
FEV1 (% predicted), median (95%CI)	40.0 (36.0–43.0)	58.0 (50.7–69.0)	<0.0001
FVC (% predicted), median (95%CI)	78.0 (69.6–85.4)	92.0 (87.2–99.0)	0.0006
FEV1/FVC (%),median (95%CI)	0.56 (0.49–0.57) (0.57–0.66)	0.69 (0.60–0.79)	<0.0001
SGRQ	[n = 18]	[n = 19]
Mean (SD)	52.7 (20.6)	28.0 (21.8)	0.001