Alpha-1 Antitrypsin Deficiency

A patient with emphysema at an unusually young age, emphysema despite never smoking, or emphysema concentrated at the lung bases should prompt a different question than simply, Which inhaler is needed? Alpha-1 antitrypsin deficiency can damage the lungs and the liver, but the two organs are injured for different reasons. In the lungs, circulating alpha-1 antitrypsin is too low to restrain neutrophil elastase, so alveolar walls lose their elastin and the lungs lose elastic recoil. In the liver, misfolded deficiency protein can accumulate inside hepatocytes and cause cellular injury. Smoking sharply increases the lung injury but does not explain the inherited disorder. That two-part model organizes the lesson: recognize the pulmonary and hepatic pattern, confirm deficiency with more than a serum level when indicated, protect the lungs from further exposure, and monitor for complications in both organs.