Spontaneous pneumothorax in flight as first manifestation of alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a genetic condition that increases the risk of a variety of conditions including pulmonary emphysema and chronic liver disease. We report on a 33-yr-old male fighter pilot with early-onset pulmonary emphysema with bullae who developed spontaneous pneumothorax during in-flight combat training. A CT scan of his chest after removal of the chest tube showed multiple variably sized bullae and pulmonary cysts scattered throughout both lungs. Serum levels of alpha-1 antitrypsin were markedly decreased. Genetic analyses showed a PI ZZ genotype. Alpha-1 antitrypsin deficiency often goes undiagnosed by flight surgeons, which is a risk to flight safety.