Alpha 1-antitrypsin Deficiency

High Quality Content by WIKIPEDIA articles! Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective 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 deficiency. 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 occasionally more unusual problems. It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of the liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and reduced life expectancy.