Diagnosis of alpha-1 antitrypsin deficiency: a population-based study

Figures & data

Table 1 Number of AAT determinations performed by year

Period	Children	Adults	Total	n/10,000 inhabitants
2007	331	1,998	2,329	4.33
2008	382	2,848	3,230	6.85
2007–2008	713	4,846	5,559
2010	325	3,351	3,676	6.77
2011	297	3,676	3,174	5.82
2010–2011	622	6,228	6,850

Abbreviation: AAT, alpha-1 antitrypsin.

Figure 1 Distribution of percentage of AAT determinations performed by age group.

Abbreviation: AAT, alpha-1 antitrypsin.

Table 2 Demographic characteristics and diseases related to AATD of children tested for AAT during the study period

Variables	Children (n=1,335)
Mean age (SD)	4.61 (4.1)
Sex (males)	769 (57.6)
Urban setting	868 (65)
Smokers	12 (0.9)
Former smokers	2 (0.1)
Bronchiectasis	2 (0.1)
Asthma	298 (22.3)
Hepatitis	7 (0.5)
Cirrhosis	0
Hepatocarcinoma	0
High transaminase levels	236 (17.7)

Note: Data are shown as n (%) unless specified otherwise.

Abbreviations: AAT, alpha-1 antitrypsin; AATD, alpha-1 antitrypsin deficiency.

Table 3 Comparison of the characteristics of adult patients tested for AAT during the study period according to AAT levels

Variable	Normal AAT levels (n=10,445)	Intermediate deficiency (n=607)	Severe deficiency (n=22)	Total (n=11,074)
Age, mean (SD)	52.9 (16.3)	48.0 (14.4)**	42.5 (15.7)**	52.6 (16.3)
Sex (males)	5,756 (55.1)	377 (62.1)**	14 (63.6)	6,147 (55.5)
Smoker	2,219 (21.2)	113 (18.6)	7 (31.8)	2,339 (21.1)
Former smoker	1,668 (16)	101 (16.6)	3 (13.6)	1,772 (16)
AAT (mg/dL), mean (SD)	150.9 (34.2)	87.6 (10.8)	27.6 (11.6)	147.2 (36.7)
Previous diseases related to AATD
COPD	937 (9)	34 (5.6)*	6 (27.3)*	977 (8.8)
Emphysema	193 (1.8)	14 (2.3)	4 (18.2)**	211 (1.9)
Chronic bronchitis	293 (2.8)	14 (2.3)	0	307 (2.8)
Bronchiectasis	284 (2.7)	11 (1.8)	0	295 (2.7)
Asthma	794 (7.6)	45 (7.4)	3 (13.6)	842 (7.6)
Hepatitis	768 (7.4)	32 (5.3)	1 (4.5)	801 (7.2)
Cirrhosis	127 (1.2)	3 (0.5)	0	130 (1.2)
Hepatocarcinoma	4 (0)	0	0	4 (0)
High transaminase levels	5,430 (52)	313 (51.6)	8 (36.4)	5,751 (51.9)
Previous respiratory infections	3,486 (33.8)	162 (26.6)*	9 (40.9)	3,657 (33.02)
Previous pneumonia	136 (1.6)	5 (0.8)	1 (4.5)	142 (1.3)
Hypertension	2,908 (27.8)	126 (20.8)**	2 (9.1)*	3,036 (27.4)
Dyslipidemia	2,901 (27.8)	158 (26)	2 (9.1)*	3,061 (27.6)
DM	1,247 (11.9)	44 (7.2)**	1 (4.5)	1,292 (11.7)
Depression	1,070 (10.2)	51 (8.4)	2 (9.1)	1,123 (10.1)
Ischemic heart disease	428 (4.1)	13 (2.1)**	0	441 (4)

Notes:

* P<0.05 and

** P<0.01 compared to individuals with normal AAT levels. Data are expressed as n (%) unless specified otherwise.

Abbreviations: AAT, alpha-1 antitrypsin; AATD, alpha-1 antitrypsin deficiency; DM, diabetes mellitus.

Table 4 Six-month follow-up of adults tested for AATD according to AAT levels

Diagnosis after AAT determination	Normal AAT levels (n=10,445)	Intermediate deficiency (n=607)	Severe deficiency (n=22)
COPD	106 (1)	5 (0.8)	2 (9.1)*
Emphysema	36 (0.3)	1 (0.2)	2 (9.1)**
Chronic bronchitis	18 (0.2)	2 (0.3)	0
Respiratory infections	3,090 (29.5)	148 (24.4)**	10 (45.5)*
Pneumonia	58 (0.6)	3 (0.5)	0
Spirometry	407 (2.9)	24 (4)	2 (9.1)
Referrals
Pneumology	229 (2.2)	22 (3.6)*	3 (13.6)*
Gastroenterology	489 (4.7)	42 (6.9)*	0
Internal medicine	73 (0.7)	2 (0.3)	1 (4.5)

Notes:

* P<0.05 and

** P<0.01 compared to individuals with normal levels of AAT. Data are expressed as n (%).

Abbreviations: AAT, alpha-1 antitrypsin; AATD, alpha-1 antitrypsin deficiency.