Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?
Table 3
Lung and liver disease in 19 individuals with the PiSS genotype and 29 controls with the PiMM genotype.
PiMM ( = 29)
PiSS ( = 19)
Diagnosis
(%)*
Age of diagnosis†
Age at interview†
(%)*
Age of diagnosis†
Age at interview†
COPD‡
5 (17.24%)
46 13.47
53 13.78
3 (15.79%)
34.33 6.03
62 5.20
Asthma
4 (13.79%)
21.25 14.5
41.25 6.80
5 (26.32%)
24.2 16.71
51.6 14.91
Frequent Pneumonia
2 (6.90%)
8.5 2.12
39.5 10.60
3 (15.79%)
11.67 9.71
48 14.73
Frequent Bronchitis
1 (3.45%)
40
53
2 (10.53%)
15 7.07
45 8.49
Other lung disease
3 (10.34%)
NA
49.67 30.17
4 (21.05%)
NA
50.5 12.18
Jaundice
3 (10.34%)
0
29.33 16.17
4§ (21.05%)
13.5 15.93
64.5 6.56
Hepatic Steatosis
1 (3.45%)
35
64
1 (5.26%)
34
35
None
17 (58.62%)
N/A
47.06 17.61
7 (36.84%)
N/A
38 16.39
*Participants may have >1 diagnosis. †Mean standard deviation. ‡COPD diagnosis was physician diagnosed with either emphysema or chronic bronchitis. §One participant had jaundice as a newborn and later diagnosed with Sjögren’s syndrome at 48 years of age and had elevated liver enzymes that resolved after a year of prednisone treatment. N/A: not applicable, NA: Not available.
