Conducting genetic testing for alpha-1 antitrypsin deficiency in sus patients with copd

a case report

Abstract

Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein primarily synthesized by hepatocytes, acting as an inhibitor of neutrophilic elastase and protecting lung tissue from degradation. Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder transmitted in an autosomal codominant manner and associated with the SERPINA1 gene. This condition is strongly linked to the development and progression of Chronic Obstructive Pulmonary Disease (COPD), leading the WHO to recommend screening for AATD in all diagnosed patients. In Brazil, due to genetic admixture, the prevalence of AATD in COPD patients is similar to that observed in other countries. Experience Report: The study was conducted during the event “Saúde na Praça” in Goiânia on November 20, 2024, with genetic testing performed on patients with COPD diagnosed by spirometry. Smokers, former smokers, and non-smokers were included. Sample collection was performed using an oral swab (saliva), and the samples were sent for complete sequencing of the SERPINA1 gene. Patients provided contact information, and the results will be available within 90 days. The initiative also included medical guidance on AATD and its implications, highlighting that 90% of participants were unaware of the condition. Final Considerations: The genetic identification of AATD in COPD patients provides a new therapeutic approach, including AAT replacement therapy and preventive counseling for family members. Such initiatives promote education, innovation, and improvements in quality of life, while potentially reducing healthcare costs by preventing COPD complications.