Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency (AATD) is the lack of a protein made by the liver that’s released into the bloodstream.
- AATD is a genetic disease that can affect the liver or lung.
- The alpha-1 protein is designed to protect tissues in the body from being attacked by its own enzymes. Children with AATD either don’t produce enough of the alpha-1 protein or the protein produced is abnormal and, therefore, is not released into the bloodstream as it should be.
- The liver injury in AATD is caused by accumulation of the abnormal protein produced within liver cells.
Boston Children's Hospital's Center for Childhood Liver Disease provides comprehensive care for infants, children, adolescents and young adults with a wide variety of liver disorders. If your child has been diagnosed with AATD, we can help.
Children with liver disease are referred to this program from New England, all of the United States and from around the world.
This program is multidisciplinary and includes hepatology, surgery, interventional radiology, interventional GI endoscopy and pathology.