Alpha-1 Antitrypsin Deficiency in Canada: Regional Disparities in Diagnosis and Management

Figures & data

Figure 1.  Distribution of registered members, and usage of augmentation therapy (italics), given in absolute number and number per million (brackets).

Table 1.  General characteristics of registry participants (n = 29)

Age: mean (SD)	52 (15)
Sex M/F	146/144
Smoking status
Current smoker	11
Ex-smoker	169
Non-smoker	110
Phenotype:
ZZ	261 (0.25 g/L)**
SZ	16 (0.52 g/L)**
Other rare variants*	13 (0.13–0.40 g/L)*** 248
Lung disease present
Emphysema	184
Asthma	46
Chronic Bronchitis	28
Bronchiectasis	10

*Rare genotypes: ZM_Malton (5); ZNull (4); ZLittleRock (1); ZR (2); RNull (1) where R is a rare variant not fully characterized.

** Mean alpha-1 antitrypsin serum level.

***Alpha-1 antitrypsin serum level range.

Table 2.  Characteristics of patients diagnosed due to lung disease

	Current and Ex-Smokers (n = 180)	Non-Smokers (n = 110)	p value
Age at first symptom	39.28 ± 11.3	49.4 ± 19.8	0.212
Age at diagnosis	45.3 ± 8.96	55.2 ± 13.3	0.0004
FEV1% predicted at baseline	47.4 ± 22.6	81.2 ± 27.0	0.000004
FEV1 decline (mL/year)	-57.3 ± 75.2	-48.1 ± 102.4	0.639
Deaths due to lung disease, N	26	3
Lung volume reduction surgery	15	2
Lung transplant	32	1
Liver transplant	0	4

Figure 2.  SGRQ scores at most recent follow-up for 106 patients, sorted by FEV₁% predicted.

Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. Orphanet J Rare Dis 2008; 3:16.

 PubMed Web of Science ®Google Scholar

Abboud RT, Ford GT, Chapman KR. Alpha1-antitrypsin deficiency: a position statement of the Canadian Thoracic Society. Can Respir J 2001; 8(2):81–88.

 PubMedGoogle Scholar