Alpha 1 antitrypsin deficiency aatd is an inherited disorder characterized by low serum levels of alpha 1 antitrypsin aat loss of aat disrupts the protease antiprotease balance in the lungs allowing proteases specifically neutrophil elastase to act uninhibited and destroy lung matrix and alveolar structures. The pathophysiology of alpha 1 antitrypsin aat deficiency and the use of alpha 1 proteinase inhibitor therapy in the management of emphysema caused by aat deficiency are described aat deficiency is the most common genetic cause of liver disease in children and emphysema in adults however not all patients with aat deficiency develop hepatic or pulmonary involvement. Diagnosis of alpha 1 antitrypsin deficiency can be established by measurement of the serum alpha 1 antitrypsin concentration or by genetic analysis treatment is similar to the usual treatment for patients with chronic obstructive pulmonary disease a further option is substitution therapy with human alpha 1 antitrypsin. Download citation alpha 1 antitrypsin deficiency diagnosis pathophysiology and management alpha 1 antitrypsin deficiency is a relatively common but under recognized genetic disease in which