Recurrence of emphysema post-lung transplantation in a patient with alpha 1 antitrypsin deficiency (AATD).

ABSTRACT

The genetic disorder alpha 1 antitrypsin deficiency (AATD) results in reduced levels of alpha 1 antitrypsin (AAT) in the lung and an imbalance between AAT anti-protease activity and the activity of proteases that degrade elastin and connective tissues. This imbalance commonly leads to the excessive proteolysis of structural tissue of the alveoli, causing chronic obstructive pulmonary disease (COPD)/emphysema. While patients with AATD are encouraged to make lifestyle changes, including stopping smoking, and can be treated with alpha 1 antitrypsin therapy (AAT therapy) to slow progression of COPD/emphysema, damage to the lungs is irreparable, and therefore, lung transplantation is required in severe cases. However, following lung transplant, the genetic cause of AATD-related COPD/emphysema remains, and patients may continue to be at risk of redeveloping COPD/emphysema. Recurrence of COPD/emphysema was observed in a patient with AATD 2 years after initial successful lung transplantation and cessation of AAT therapy who recommenced smoking after no signs of disease at the 1-year assessment. This case demonstrates that smoking cessation is critical in patients with AATD, even after lung transplant, and it highlights that patients with AATD may benefit from AAT therapy post-lung transplant.