Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant condition that predisposes to chronic obstructive pulmonary disease (COPD), liver disease (including cirrhosis and hepatocellular carcinoma), and panniculitis, and is associated with anticytoplasmic antibody (C-ANCA) positive vasculitis. Severe deficiency is defined as having AAT serum levels that fall below a “protective threshold” value (i.e., the serum AAT value below emphysema risk rises), which is widely considered to be 11 micromolar (or 57 mg/dl). Pulmonary manifestations of AATD are emphysema, chronic bronchitis, and bronchiectasis. Alpha-1 antitrypsin augmentation therapy in appropriately selected individuals slows progression of emphysema as assessed by CT densitometry. Selected patients may require lung transplantation.