Heterozygous Alpha-1 Antitrypsin Deficiency Causing Pulmonary Emboli and Pulmonary Bullae

Alpha-1 antitrypsin deficiency is an autosomal co-dominant disease known for different genetic alterations in the serine protease inhibitor enzyme by which different disease phenotypes can manifest. The lung and the liver are the most common organs involved. The severity of the disease depends on the phenotypes involved. However, emerging evidence shows that this disease can impact multiple organ systems and may even develop regardless of the phenotype. We describe a case of a young man with a known history of the MS phenotype who presented with chest pain and was found to have pulmonary emboli and bullae. His past medical history was relevant for a gastric ulcer and elevated liver enzymes. Due to this young man’s age and lack of risk factors for the aforementioned diseases, we propose that these findings were manifestations of his MS phenotype. This case raises multiple questions challenging the presumed benign nature of the MS phenotype. We propose a closer follow-up and lower threshold for diagnostic studies in patients with the heterozygous form.