Difficulties in diagnosing and managing a patient with alpha-1-antitrypsin deficiency (clinical case)

Alpha-1-antitrypsin deficiency (A1ATD) is a rare hereditary disorder that most commonly manifests in adults by damage to the respiratory system. The disease prevalence varies across different populations and has not been fully established, while the variability in clinical manifestations leads to difficulties in achieving a timely diagnosis. This paper presents a detailed clinical case report of severe A1ATD in a patient with the ZZ phenotype of the disease. It demonstrates the disease progression and management strategy from the onset of the initial respiratory symptoms to the establishment of the correct diagnosis and an episode of severe exacerbation requiring admission to the intensive care unit.