• Davide Piloni, Stefania Ottaviani, Laura Saderi, Luciano Corda, Paolo Baderna, Valentina Barzon, Alice M Balderacchi, Christine Seebacher, Bruno Balbi, Federica Albicini, Alessandra Corino, Maria C Mennitti, Claudio Tirelli, Fabio Spreafico, Matteo Bosio, Francesca Mariani, Giovanni Sotgiu, Angelo G Corsico, and Ilaria Ferrarotti.
• Section of Pneumology, IRCCS San Matteo Polyclinic Foundation, Pavia, Italy.
• Minerva Med. 2024 Feb 1; 115 (1): 233123-31.

BackgroundSevere alpha1-antitrypsin (AAT) deficiency (AATD) is associated with a high risk of airflow obstruction and emphysema. The risk of lung disease in those with intermediate AAT deficiency is unclear. Our aims were to compare pulmonary function, time of onset of symptoms, and indicators of quality of life among patients with severe AATD (PI*ZZ), patients with intermediate AATD (PI*MZ) from the Italian Registry of AATD with a chronic obstructive pulmonary disease (COPD) cohort of patients without AATD (PI*MM).MethodsWe considered a total of 613 patients: 330 with the PI*ZZ genotype, 183 with the PI*MZ genotype and 100 with the PI*MM genotype. Radiological exams, pulmonary function test, and measurement of quality of life have been performed on all cohorts of patients.ResultsThe three populations differ significantly in terms of age at COPD/AATD diagnosis (P=0.00001), respiratory function (FEV1, FVC, DLCO P<0.001), quality of life (P=0.0001) and smoking history (P<0.0001). PI*ZZ genotype had 24.9 times a higher likelihood of developing airflow obstruction. The MZ genotype is not associated with a significant early risk of airflow obstruction.ConclusionsThe comparison of populations with PI*ZZ, MZ and MM genotypes allows to delineate the role of alpha1-antitrypsin deficiency on respiratory function and on the impact on quality of life, in relation to other risk factors. These results highlight the crucial role of primary and secondary prevention on smoking habits in PI*MZ subjects and the importance of an early diagnosis.

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