In the United States, Canada, and several European countries, lung-affected A1AD patients may receive intravenous infusions of alpha-1 antitrypsin, derived from donated human plasma. This augmentation therapy is thought to arrest the course of the disease and halt any further injure to the lungs. Long-term studies of the effectiveness of A1AT replacement therapy are not available.
Alpha 1-antitrypsin deficiency is a genetic disorder caused by imperfect production of alpha 1-antitrypsin, leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There are several forms and degrees of shortage. Severe A1A deficiency causes panacinar emphysema and/or COPD in adult life in many people with the condition as well as various liver diseases in a minority of children and adults, and infrequently more unusual problems.