pulmonary disorders
Alpha 1 Antitrypsin Deficiency
Introduction
Alpha-1 antitrypsin deficiency is congenital lack of a primary lung antiprotease, alpha-1 antitrypsin, which leads to increased protease-mediated tissue destruction and emphysema in adults. Hepatic accumulation of abnormal alpha-1 antitrypsin can cause liver disease in both children and adults. Serum alpha-1 antitrypsin level<11 mmol/L (<80 mg/dL) confirms the diagnosis. Treatment is smoking cessation, bronchodilators, early treatment of infection, and, in selected cases, alpha-1 antitrypsin replacement. Severe liver disease may require transplantation. Prognosis is related mainly to degree of lung impairment. 