Lung function in 30-year-old alpha-1-antitrypsin-deficient individuals

Background: Alpha-1-antitrypsin (AAT) deficiency increases the risk of emphysema, especially in smokers. In 1972-1974, all 200,000 Swedish new-born infants were screened for AAT deficiency and individuais with severe (PiZZ) and moderate (PiSZ) deficiency have been followed-up regularly. The aim of the present study was to examine their tung function at the age of 30 years, comparing them to a group of age-matched control subjects (PiMM) recruited from the general population, and to compare current smokers with never-smokers. Method: Static and dynamic spirometry, including TLC, FRC, RV, VC, FEV1, K-CO and D-L,D-CO, was performed for all participants. All values were expressed as percentages of the expected values. FEV1/VC was expressed both as percentage of the expected value and in absolute numbers. Results: Four of 60 PiZZ, none of 19 PiSZ and 9 of 33 PiMM participating individuals were current smokers. All Pi groups had a normal mean FEV1. The mean (SD) FEV1/VC ratio was 75% (7.4) in the PiZZ smokers and 84% (5.5) in the PiZZ never-smokers (p < 0.01). The mean (SD) K-CO was 81 (13) in the PiZZ smokers and 99 (14) in the PiZZ never-smokers (p < 0.05). Conclusion: AAT-deficient individuals identified by neonatal screening have normal lung function at the age of 30. The PiZZ smokers had changes in tung function that may be signs of early emphysema. (C) 2009 Elsevier Ltd. All rights reserved.