Alpha-1 Antitrypsin Deficiency (AATD)

What is AATD?

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.

What are the symptoms of AATD?

Symptoms of AATD liver disease in children may include:

  • jaundice at birth that does not go away
  • dark urine and pale stools
  • elevated liver enzyme levels
  • severe itching
  • enlarged spleen
  • easy bleeding or bruising

How we care for AATD

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 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.