Comparison between population with severe (ZZ) and intermediate (MZ) alpha1-antitrypsin deficiency and established COPD

INTRODUCTION: Severe alpha1-antitrypsin (AAT) deficiency is associated with a high risk of airflow obstruction and emphysema. The risk of lung disease in those with intermediate AAT deficiency is unclear. AIM: To assess pulmonary function, smoking habit, time of onset of symptoms, and indicators of quality of life (St. George Questionnaire) in patients with intermediate (PI*MZ) and severe (PI*ZZ) AATD in comparison with COPD patients without AATD (PI*MM). METHODS: Patients with PI*ZZ (n= 330), with PI*MZ (n=183), and with PI*MM (n= 100) with an established COPD diagnosis were recruited from the Italian Registry of Severe AATD, . Functional, clinical, radiological, therapeutic, and quality of life data were retrospectively collected . RESULTS: The three cohorts significantly differed in terms of age at diagnosis (P< 0.0001), respiratory function (FEV1 P= 0.001; FVC P= 0.001; DLCO P <0.001), quality of life (P= 0.0001) and smoking history (P <0.0001). ZZ genotype is significantly associated with a higher risk of airflow obstruction in comparison with MM [aOR= 44.9 (11.4-176.3); P <0.0001], showing a greater impact on obstruction than smoking history and age [ aOR= 5.9 (2.6-13.6); P <0.0001; aOR= 1.1(1.1-1.1)- P <0.0001, respectively]. The MZ genotype is not associated with a significant early risk of airflow obstruction. CONCLUSION: The comparison of individuals with PI*ZZ, MZ, and MM genotypes can help assess the role of alpha1-antitrypsin deficiency on respiratory function and on the impact on quality of life.

Confronto tra popolazioni di pazienti con deficit severo (ZZ) e intermedio (MZ) di alfa1-antitripsina e diagnosi di BPCO