Alpha-1 antitrypsin deficiency and pulmonary morbidity in patients with primary immunodeficiency disease: A single center experience

Abstract

Introduction: Alpha-1 antitrypsin deficiency (AATD) plays an important role in the pathogenesis of both emphysema and chronic obstructive pulmonary diseases (COPD). Chronic pulmonary morbidity is also a typical feature of primary immunodeficiency disease (PID) comprising a large spectrum of heterogeneous disorders mostly accompanied by hypogammaglobulinemia and recurrent pulmonary infections. Since we had identified one patient with AATD we decided to screen a larger number of PID patients. Material and Methods: Against this background we evaluated n = 142 cases diagnosed with PID in our institution according to the current ESID criteria. Serum AAT concentration was available for n = 100 patients. Clinical associations and interactions were evaluated. Results: Among the investigated patients, reduced serum AAT levels were detected in n = 7 patients. With regard to the phenotype, PI*ZZ was found in n = 2 patients, whereas PI*MZ was observed in n = 5 patients. Independent from the underlying phenotype, obstructive lung disease was found in n = 2 patients with PI*ZZ and n = 2 patients with PI*MZ. Discussion: In Germany, estimated percentage for PI*ZZ and PI*MZ is 0.01% and 1.9%, respectively. In contrast, the ratio in our study collective of 100 patients was higher, since we identified seven patients with AATD. Since AATD contributes to pulmonary morbidity in PID patients, systematic underdiagnosis of the coexistence might yield a strong clinical impact. To address this issue, AAT analysis should be offered to all patients with confirmed PID diagnosis. Without doubt, larger database analysis is required to confirm our retrospective observations.