No gender-specific differences in comorbidities in patients with chronic obstructive pulmonary disease due to alpha-1 antitrypsin deficiency

Abstract

Abstract Background A deficiency in alpha-1 antitrypsin (A1AD) leads to increased activity of proteolytic enzymes. The consequence is a damage of airways and alveoli and, ultimately, the development of emphysema and chronic obstructive pulmonary disease (COPD). Purpose Gender-specific differences in terms of comorbidities are still unclear due to the rarity of this genetic autosomal recessive disease. Patients and methods This retrospective observational study was conducted from January 1, 2005, to November 30, 2022, in the Department of Pneumology, HELIOS University-Clinic Wuppertal, University of Witten/Herdecke, Germany. Results Eleven patients with COPD due to A1AD could be included into the study (6 males, 54.5%; 95% CI 23.4–83.3%) with a mean age of 53.9 ± 11.6 years. The male study participants were of normal weight body mass index 24.17 ± 4.67, while the females were obese 31.2 ± 4.87 (p = 0.054). More women were smokers (60%, p = 0.567). Furthermore, all of the women had panlobular emphysema (100%, p = 0.455). All subjects suffered from COPD, with most male subjects in severe advanced stages (50%, p = 0.545). No case of liver involvement was observed in this study. Conclusion The findings of this study showed no statistically relevant gender-specific differences in comorbidities of patients with COPD due to A1AD.