Cause-specific mortality in individuals with severe alpha 1-antitrypsin deficiency in comparison with the general population in Sweden

Figures & data

Table 1 Demographic data of the PiZZ individuals at inclusion in the Swedish AAT Deficiency Register

Characteristics	N=1,561
Never-smoker, n (%)	717 (46)
Mean (SD) age at diagnosis (years)	41 (21)
Mean (SD) age at inclusion (years)	47 (17)
Mode of identification
Respiratory, n (%)	670 (43)
Liver disease, n (%)	111 (7)
Screening, n (%)	367 (24)
Other, n (%)	413 (26)
Mean (SD) FEV1 (% predicted)	74 (33)
Mean (SD) FVC (% predicted)	94 (24)
Mean (SD) FEV1/FVC ratio	0.64 (22)
Mean (range) number of pack-years	14 (0.1–116)
Deaths, n (%)	524 (34)
Mean age (SD) at death	68 (12)

Abbreviations: PiZZ, severe alpha 1-antitrypsin deficiency; AAT, alpha 1-antitrypsin; FEV₁, forced expiratory volume in 1 second; FVC, forced vital capacity; SD, standard deviation.

Table 2 Cause-specific mortality in severe alpha 1-antitrypsin deficiency

Disease types	Observed/expected	SMR (95% CI)
Overall SMR	524/147	3.6 (3.3–3.9)
COPD	281/5.8	48.4 (43.0–54.5)
Hepatic
Liver failure/complications	44/0.9	47.8 (35.8–64.2)
Primary liver carcinoma	27/0.3	90.0 (59.3–130.9)
Cholangiocarcinoma	3/0.2	15.0 (3.1–43.8)
Colon diverticulitis	5/0.2	20.8 (6.7–48.6)
Cardiovascular disease	76/82.2	0.9 (0.7–1.2)
Ischemic heart disease	22/42.1	0.5 (0.3–0.8)
Heart failure	18/4.5	4.0 (2.4–6.3)
Pulmonary embolism	10/1.4	6.9 (3.3–12.7)
Aorta dissection	3/2.9	1.0 (0.2–3.0)
Stroke	19/17.8	1.1 (0.6–1.7)
All cancer	87/58.6	1.5 (1.2–1.8)
Lung cancer	9/10.3	0.9 (0.4–1.7)
Colon cancer	8/5.3	1.5 (0.6–3.0)
Breast cancer	6/4.4	1.4 (0.5–3.0)

Abbreviations: SMR, standardized mortality ratio; CI, confidence interval.

Table 3 Cause-specific mortality in ever-smokers and never-smokers with severe alpha 1-antitrypsin deficiency

	Ever-smokers		Never-smokers
	Observed/expected	SMR (95% CI)	Observed/expected	SMR (95% CI)
COPD	214/3.0	71.3 (62.1–81.6)	67/2.8	24.0 (18.5–30.4)
Hepatic
Liver cirrhosis/complications	25/0.53	47.2 (30.5–69.6)	19/0.39	48.7 (29.3–76.1)
Primary liver carcinoma	12/0.17	70.6 (36.5–123.3)	15/0.12	125.0 (70.0–206.2)
Cholangiocarcinoma	1/0.11	9.1 (0.2–50.7)	2/0.86	2.3 (0.3–8.4)
Cardiovascular disease	40/40.2	1.0 (0.7–1.4)	36/41.1	0.9 (0.6–1.2)
Ischemic heart disease	13/21.6	0.6 (0.3–1.0)	9/20.0	0.4 (0.2–0.8)
Heart failure	8/1.7	4.7 (2.0–9.3)	10/2.6	3.8 (1.8–7.1)
Pulmonary embolism	6/0.74	8.1 (3.0–17.7)	4/0.70	5.7 (1.6–14.6)
Stroke	9/8.2	1.1 (0.5–2.1)	10/9.3	1.1 (0.5–2.0)
Lung cancer	6/6.2	1.0 (0.36–2.1)	3/4.1	0.7 (0.2–2.1)

Abbreviations: SMR, standardized mortality ratio; CI, confidence interval.

Table 4 Cause-specific mortality by airflow limitation in severe alpha 1-antitrypsin deficiency

	FEV1/FVC ratio ≥0.70		FEV1/FVC ratio <0.70
	Observed/expected	SMR (95% CI)	Observed/expected	SMR (95% CI)
COPD	26/1.8	14.4 (9.4–21.2)	253/3.9	64.9 (57.1–73.4)
Cardiovascular disease	29/25.0	1.2 (0.8–1.7)	47/54.6	0.9 (0.6–1.1)
Ischemic heart disease	5/12.2	0.4 (0.1–0.9)	17/28.8	0.6 (0.3–0.9)
Heart failure	7/1.5	4.7 (1.9–9.6)	11/2.8	3.9 (2.0–7.0)
Pulmonary embolism	2/0.5	4.0 (0.5–14.4)	8/0.94	8.5 (3.7–16.8)
Lung cancer	4/3.2	1.3 (0.3–3.2)	5/6.9	0.7 (0.2–1.7)

Abbreviations: FEV₁, forced expiratory volume in 1 second; FVC, forced vital capacity; SMR, standardized mortality ratio; CI, confidence interval.