Heterozygous Alpha-1 Antitrypsin Deficiency in COPD patients

<bold>Background</bold> Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition characterised by a protease/antiprotease imbalance due to a decreased AAT concentration and activity in both serum and tissue. Few studies have investigated whether heterozygous genotype of the SERPINA1 gene, may influence symptoms and disease control in chronic obstructive pulmonary disease patients (COPD). <bold>Aim</bold> To assess whether the presence of a heterozygous genotype of SERPINA1 in patients with COPD may be associated with disease control, systemic inflammation, lung function and comorbidities prevalence compared to COPD patient with a homozygous phenotype (MM). <bold>Methods</bold> COPD patients belonging to GOLD grades 2-3-4 were analysed. The analysed variables were comorbidities, smoking habits, blood eosinophils and neutrophils, COPD assessment test (CAT), 6-minute walking test (6MWT), systolic pulmonary artery pressure (PASP), number of exacerbations in the previous year, lung function test, and serum alpha 1 antitrypsin concentration. A p-value of less than 0.05 was considered statistically significant. <bold>Results</bold> Out of 28 patients enrolled, 12 (42.9%) were heterozygotes and 16 (57.1%) were MM. Heterozygotes COPD patients, had lower serum alpha 1 antitrypsin concentration compared to MM group (p<0.001). They had higher gastroesophageal reflux disease (GERD)(p= 0.004) and a higher number of exacerbations in the previous year (p=0.016) than MM patients. Lung function variables, smoking habits, inflammatory biomarkers, CAT and 6MWT were not statistically significant. <bold>Conclusion</bold> COPD patients with a heterozygotes genotype differ from the MM group for serum AAT concentration, presence of GERD and number of exacerbations in the previous year.