Alpha 1-antitrypsin deficiency (?1-antitrypsin deficiency, A1AD or simply Alpha-1) is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), 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 (especially if they are exposed to cigarette smoke), 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.
?1-antitrypsin deficiency has been associated with a number of diseases:
Pelvic organ prolapse
Primary sclerosing cholangitis
Emphysema, predominantly involving the lower lobes and causing bullae
Hepatocellular carcinoma (liver)