Alpha-1 Antitrypsin Deficiency
Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells There are several forms and degrees of deficiency. Severe A1A deficiency causes emphysema in adult life in nearly all people with the condition, various liver diseases in a minority of children and adults, and occasionally more unusual problems It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and shortens life.