Background: An increased incidence of serum alpha-1 antitrypsin deficiency has been reported in patients with chronic obstructive pulmonary disease, but has not been well proven in association with spontaneous pneumothorax. The aim of our study was to evaluate frequency of alpha-1 antitrypsin deficiency in subjects with spontaneous pneumothorax.
Methods: 39 patients with the diagnosis of spontaneous pneumothorax and 100 age- and sex-matched control subjects were included in the study. Alpha-1 antitrypsin concentrations were determined by nephelometry, Serum qualitative Z antitrypsin variant was analyzed using commercial ELISA kits and alpha-1 antitrypsin phenotyping was carried out by means of isoelectric focusing.
Results: AAT deficiency phenotypes were detected in 3 (7.7%) patients with spontaneous pneumothorax, and only in 1 (1%) case in the control group. However, the observed differences did not reach statistical significance due to the considerable size disproportion between groups. The mean serum alpha-1 antitrypsin level was significantly higher in patients with spontaneous pneumothorax (1.53 +/- 0.23 g/l) than controls (1.34 +/- 0.37 g/l) (p = 0.03).
Conclusions: Preliminary data confirm the clinical importance of alpha-1 antitrypsin deficiency phenotypes in patients with spontaneous pneumothorax and the need to screen them for alpha1-antitrypsin deficiency.