Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder characterised by a shortage of the protein alpha-1 antitrypsin in the blood plasma.
The protein alpha-1 antitrypsin (AAT) is mainly produced in the liver. The main job of AAT is to protect the lungs from damage caused by infection and inhaled irritants such as smoke. A deficiency can lead to life-threatening lung and/or liver disease. The most serious liver diseases are cirrhosis and liver cancer.