Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin (AAT) is a protein produced primarily in the liver that functions as an enzyme inhibitor. AAT is synthesized and secreted into the bloodstream, where it binds to and inhibits proteases, enzymes that catalyze the breakdown of proteins. In individuals with alpha-1 antitrypsin deficiency (AATD), a condition that results from an inherited mutation in the SERPINA1 gene, synthesis of the alpha-1 antitrypsin protein is impaired and elevated levels of proteases are present both in the liver and in other tissues, such as the lungs.
Over time, elevated protease activity leads to elevated liver enzymes, chronic liver disease, and lung disease. There is no cure for AATD, but treatment focuses on managing elevated liver enzymes and other symptoms, as well as preventing or slowing the progression of organ damage.
Treatment for elevated liver enzymes due to Alpha-1 antitrypsin deficiency typically involves using medication to control the symptoms and prevent further damage to the liver. In addition, lung transplantation, medications to reduce protease activity, and whole organ donation are recommended to treat and manage the other symptoms of Alpha-1 antitrypsin deficiency.
Treatment for elevated liver enzymes due to Alpha-1 antitrypsin deficiency typically involves using medication to control the symptoms and prevent further damage to the liver.
