Alpha 1-protease inhibitor deficiency. Diagnosis, follow-up and therapy options

Abstract

Alpha-1 antitrypsin (alpha-1 proteinase inhibitor) deficiency is characterized by a marked reduction of alpha-1 antitrypsin, the major antiprotease in man. Alpha-1 antitrypsin deficiency is one of the most common hereditary diseases in Caucasians of European descent. Alpha-1 antitrypsin deficiency is the underlying disorder in approximately 2% of all patients with chronic obstructive pulmonary disease and lung emphysema. Young adults by the age of 30 to 45 years have a high risk for the development of lung emphysema with cough, sputum expectoration and respiratory insufficiency. There is a moderate risk of liver disease. The diagnosis is obtained by measurement of alpha-1 antitrypsin serum levels. Recognition of the disorder is important to prevent deterioration of the pulmonary function by early initiation of preventive measures and treatment. Therapeutic options are physiotherapy, antiobstructive medication and antibiotics. The most direct approach is the intravenous augmentation therapy with purified alpha-1 antitrypsin.