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Introduction: Alpha1-antitrypsin (A1AT) deficiency is an autosomal co-dominant disease related to SERPINA-1 gene mutations predisposing to pulmonary emphysema and/or liver disease. Aim: to examine the genotype and phenotype of a Greek cohort of A1AT-deficiency patients. Methods: This multicenter study enrolled A1AT-deficiency patients under augmentation treatment from 8 centers in Greece. Results: 23 adult patients, 61% male, 17.4% non-smokers, diagnosed at a median age (IQR) of 47(42-58) years with A1AT levels of 0.24 (0.04-0.4) g/L were identified. Indications for A1AT measurement were severe obstructive pulmonary disease at the age Conclusion: In contrast with the literature, where Z and S are the most common A1AT-deficiency alleles, the present study reveals extremely rare deleterious variants in Greek A1AT-deficiency patients under augmentation treatment. Further examination of phenotype-genotype associations and outcome is expected to unveil their clinical significance in the future.

Introduction: COPD and impaired glycemic control are characterized by systemic inflammation. Etiologic correlation between them is under investigation. Objective: The aim of this study is to examine the prognostic value of HbA1c levels in an acute exacerbation of COPD (AECOPD) as well as in COPD disease9s morbidity and mortality during the following year. Methods: Levels of HbA1c were recorded in patients admitted to the hospital for an AECOPD. Values above 6.5 % were considered high. All subjects were followed up for one year, their vital status and new AECOPD events were recorded. The study outcomes included duration of hospital stay, need for mechanical ventilation, time to next AECOPD and death. Results: Thirty-seven patients optimally treated were included. HbA1c was high in 7 (18.9%) patients. There was no difference in the duration of hospital stay between patients with low an high HbA1c levels (p=0.149). Though 57% of patients with high levels of HbA1c required mechanical ventilation vs 13% of patients with low HbA1c levels (p=0.012). In the follow up year no significant difference was observed in the time of the next AECOPD, the time of the next hospitalization for AECOPD and one-year mortality between the two study groups (p=0.258, p=0.929, p=0.076 respectively, Log Rank test). Conclusion: Preliminary data indicate that HbA1c levels >6.5% could be used as a prognostic biomarker of an exacerbation9s severity and could possibly be extended to to predicting one year mortality. Increased HbA1c levels are likely to reflect an increased inflammatory state which amplifies the risk of COPD disease9s adverse effects.

Sputum and blood eosinophils are proposed as candidate biomarkers for the identification of COPD patients at risk for exacerbation and treatment response. In this study, we evaluated the associations of eosinophils with the presence of emphysema in COPD patients. Induced sputum and blood eosinophil measurements were performed in consecutive COPD patients. Patients underwent lung function testing and high resolution computed tomography (HRCT) of the chest and the presence of emphysema was quantified. Patients with emphysematous lesions in ≥15% of the pulmonary parenchyma were considered having significant emphysema. Ninety-eight patients were included in the study. Patients with significant emphysema had lower blood eosinophil counts compared to patients without emphysema [median (IQR) 34.6 (0.0, 63.0) vs 169.0 (110.0, 260.0) cells/μL, p In conclusion, patients with significant emphysema in HRCT present lower levels of blood eosinophils and these differences were present irrespective of the frequent exacerbator history or the use of ICS. Blood eosinophils may not represent a clinically relevant biomarker in the presence of emphysema.