pulmonary disorders
Alpha 1 Antitrypsin Deficiency
Key Points
Suspect alpha-1 antitrypsin deficiency if patients have unexplained emphysema, liver disease (particularly in neonates), panniculitis, or bronchiectasis. Diagnose using genotyping and confirm using serum alpha-1 antitrypsin levels<80 mg/dL (<15 micromol/L). Treat selected patients (nonsmoking patients in whom both alleles are abnormal and who have mild to moderately abnormal pulmonary function and low serum alpha-1 antitrypsin levels) with purified human alpha-1 antitrypsin. Consider liver transplantation if liver failure develops. 