Alpha-1 Antitrypsin Deficiency and Lung Transplantation: A Clinical Case

Abstract

BACKGROUND: α1-antitrypsin deficiency is the most common hereditary disorder in adults and is associated to an increased risk of developing lung emphysema. METHODS: With this case report, we describe the case of a 54 years old patient, who underwent bilateral lung transplantation due to alpha-1 antitrypsin deficiency emphysema. RESULTS: The patient was diagnosed with partial alpha-1 antitrypsin deficiency (189 mg/dl) associated to PIMZ genotype; although he quitted smoking, lung disease progressively deteriorates to chronic respiratory failure. Now the patient is alive 10 months after lung transplant. CONCLUSIONS: We consider it an interesting clinical case regarding the opportunity to implement augmentation therapy, not only to preserve native lungs, but also to prevent chronic lung allograft dysfunction.