Alpha-1-Antitrypsin Deficiency (AAT)

Alpha 1-Antitrypsin Deficiency (AAT)

Alpha 1-antitrypsin is a protein that diffuses into tissue spaces to protect tissues from being harmed by enzymes released from cells when they are injured and inflamed. Alpha 1-antitrypsin deficiency is an inherited condition characterized by abnormally low levels of this important protective blood protein.

Although the deficiency is frequently associated with lung disease in adults, the disease also affects liver cells. Liver involvement is more common in children than in adults. Occurring in approximately 1 of each 1600 live births, AAT deficiency is the most common genetic cause of liver disease in children. Liver disease occurs in approximately 10% of infants born with a severe form of the deficiency. Some adults with a severe or intermediate form of AAT deficiency also develop cirrhosis or liver cancer.

Treatment options include AAT augmentation by IV infusion for lung disease. Lung or liver transplants are reserved for end-stage disease resistant to conservative treatment. Liver transplantation replaces abnormal liver cells that produce a ineffective form of AAT. Gene therapy is also being studied as a form of treatment.

This link takes you to the website of the Alpha 1 Association