Alpha-1 Antitrypsin Deficiency and Lung Disease in Patients with Primary Immunodeficiencies

Introduction

Primary immunodeficiency (PID) is a term referring to a heterogeneous group of diseases characterized by various and often congenital defects in the functioning of the immune system. The clinical picture of PID also includes various lung diseases, mainly recurrent lung infections, lung damage due to immunodysregulation, and autoimmune diseases. The German authors of the presented study therefore attempted to determine whether lung damage in PID and AATD might be related.

Study Population and Findings

The study sample consisted of 149 patients with PID, of whom 110 had serum AAT concentration determined. Reduced levels of AAT were found in 7 patients (2 had the PI∗ZZ genotype and 5 had the PI∗MZ genotype). Obstructive lung disease was found in 2 patients with PI∗ZZ and 2 patients with PI∗MZ.

Among the participants with PID, a higher prevalence of AATD was found compared to the general population (the prevalence of PI∗ZZ is estimated at 0.01% and PI∗MZ at 1.9%).

Conclusion

Since AATD contributes to increased mortality of lung diseases in patients with PID, the systematic underdiagnosis of AATD in these patients is a major clinical problem. It would be appropriate to verify the results of this study in a larger number of patients. If confirmed, AAT levels should be checked in all patients with PID.

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Source: Evers G., Schulze A. B., Thrull M. et al. Alpha-1 antitrypsin deficiency and pulmonary morbidity in patients with primary immunodeficiency disease: a single-center experience. Can Respir J 2020 May 27; 2020: 4019608, doi: 10.1155/2020/4019608.