Alpha-1 antitrypsin deficiency (AATD) is a genetic condition which often presents as lung disease in adults and can be associated with liver disease in a smaller number of adults and also affected children. Smoking increases the appearance of symptoms and damage to the lungs.
Liver disease, called cirrhosis of the liver can be present in children, and has also been reported in up to 15 percent of adults with AATD. Rarely, AATD can cause a skin condition known as panniculitis.
Last reviewed: 14 June 2023