Alpha-1 antitrypsin deficiency (AATD) is a common, serious disease that is passed down from parents to children. It can cause liver and lung disease. The liver makes a protein called alpha-1 antitrypsin that goes into the bloodstream. This protein protects the lungs and allows them to work normally. If there is not enough alpha-1 antitrypsin, it is called alpha-1 antitrypsin deficiency (AATD).
Alpha-1 antitrypsin deficiency is the most common genetic cause of liver disease in children and is the most common genetic disease for which liver transplantation is done.
Some studies suggest one in 3,000 Americans have AATD, and that 95 percent of these individuals have not been diagnosed.