An alpha-1 antitrypsin deficiency screening study in patients with chronic obstructive pulmonary disease, bronchiectasis, or asthma in Turkey

Purpose: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition characterized by decreased serum alpha-1 antitrypsin (AAT) levels. We aim to identify AATD in patients with chronic obstructive pulmonary disease (COPD), bronchiectasis, or asthma and to report the frequency of AAT variants in Turkey. Patients and Methods: This non-interventional, multicenter, prospective study was conducted between October 2021 and June 2022. Adult patients with COPD, bronchiectasis, asthma, liver symptoms, or family members with AATD were included. Demographic and clinical characteristics, pulmonary diagnosis, respiratory symptoms, and AAT serum levels were assessed. Whole blood samples were collected as dried blood spots, and the most common AATD mutations were simultaneously tested by allele-specific genotyping. Results: A total of 1088 patients, mainly diagnosed with COPD (92.7%) and shortness of breath (78.7%), were assessed. Fifty-one (5%) were found to have AATD mutations. Fifteen (29.4%) patients had Pi*S or Pi*Z mutations, whereas 36 (70.6%) patients carried rare alleles Pi*M malton (n=18, 35.3% of mutations), Pi*I (n=8, 16%), Pi*P lowell (n=7, 14%), Pi*M heerlen (n=2, 4%), and Pi*S iiyama (n=1, 2%). The most common heterozygous combinations were Pi*M/Z (n=12, 24%), and Pi*M/M malton (n=11, 22%). Ten patients with severe AATD due to two deficiency alleles were identified, two with the Pi*Z/Z genotype, four with the genotype Pi*M malton/M malton, three with Pi*Z/M malton, and one with Pi*Z/M heerlen. Conclusion: Our results identified AATD mutations as a genetic-based contributor to lung disease in patients with COPD or bronchiectasis and assessed their frequency in a population of Turkish patients

Factors Associated with Increasing Costs in Severe Chronic Obstructive Pulmonary Disease Exacerbation: Turkish Thoracic Society Chronic Obstructive Pulmonary Disease Assembly

OBJECTIVE: Chronic obstructive pulmonary disease (COPD) that is the third leading cause of death in the world is one of the main economic burden. The cost is primarily due to COPD exacerbations and hospitalizations. We aimed to determine the factors associated with increasing costs in severe COPD exacerbation. MATERIAL AND METHODS: It was a multicenter and prospective observational recording study. 294 patients who severe COPD exacerbation were included in the study. An amount of more than 429.58 euros was accepted as increasing costs (IC). Factors associated with IC were determined by regression analysis. RESULTS: Mean age was 69.90 ± 9.79/years (minimum: 40 maximum: 95), mean costs were 594.9 ± 70.9 euros. About 83.7% of the patients were male, 24.1% (71) were active smokers, and 81% (238) had at least 1 comorbidity. Factors associated with IC in the regression analysis were delay of discharge (due to prolonged consultation), antibiotic use longer than 7 days, need to enteral/parenteral feeding, application of pulmonary rehabilitation (physiotherapy) at hospitalization, and refusal to be discharged. CONCLUSION: The increasing costs in severe COPD exacerbation depends not only treatment but also the patient’s social status and hospital-related factors. We think that the cost of severe COPD exacerbation can be reduced by interventions on interchangeable factors such as patient's social status and hospital-related factors