Early signs of COPD in 42 years old individuals with severe alpha-1-antitrypsin deficiency

Background: Hereditary alpha-1-antitrypsin deficiency (AATD) is a known risk factor for early development of COPD. By national screening in Sweden 1972-1974 a cohort of 129 individuals with severe (PiZZ) AATD was detected and followed up regularly. Aims: To study signs of COPD in the cohort at the age of 42 years compared with an age matched control group randomly selected from the population registry. Methods: At the age of 42 we invited the cohort and 300 control subjects to participate in the study. They answered questionnaire on quality of life (St Georges Respiratory Questionnaire, SGRQ) and underwent spirometry. Results: A total of 84 PiZZ and 72 control subjects answered the questionnaire. 68 PiZZ and 70 controls underwent spirometry. There was no significant difference in SGRQ-score between PiZZ ever-smokers and never-smokers but PIZZ ever-smokers had significantly higher score in all categories compared with never-smoking controls [symptom 14.0 vs. 4.5 (p=0.04), activity 18.8 vs. 7.8 (p=0.01), impact 7.3 vs. 1.0 (p=0.03), total 12.0 vs. 3.8 (p The mean (95%CI) Total Lung Capacity was 120 (112-128) % pred. in PiZZ ever-smokers, 106 (103-110) in PiZZ never-smokers and 108 (105-111) in control never-smokers. The mean (95%CI) Residual Volume in ever-smoking PiZZ subjects was significantly higher compared with ever-smoking controls [126 (106-147) % pred., 100 (94-105), respectively]. No significant differences were found in FEV1 or VC between the smoking subgroups. However, 29% of the PiZZ ever-smokers and 8% of the PiZZ never-smokers had a FEV1/VC ratio Conclusion: At the age of 42, ever-smoking PIZZ individuals have COPD.