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.

Diagnosis & Treatment

How is AATD diagnosed?

AATD is diagnosed through a simple blood test that measures the level of alpha-1 antitrypsin in the blood.

Your child’s doctor may do other tests to check for liver disease as well. These can include:

Ultrasound — to get a better view of your child’s liver
Liver biopsy — to examine a sample of liver tissue under a microscope

What are the treatments for AATD?

There is no specific treatment for the liver disease associated with AATD. Not all children affected will develop liver disease — we don't know why this is.

In children with liver disease, treatment is aimed at alleviating symptoms:

medicine to relieve itching
medicine to relieve build-up of body fluid
vitamin supplements to ensure appropriate nutrition and help increase energy levels

In situations where liver disease becomes severe, your child's doctor may recommend a liver transplant.

Programs & Services

What is AATD?

What are the symptoms of AATD?

How we care for AATD