Childen's Hospital Boston 300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
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My Child Has:
Alpha-1 Antitrypsin Deficiency
Programs that treat this condition
Center for Childhood Liver Disease  
What is alpha-1 antitrypsin deficiency (AATD)?
Alpha-1 antitrypsin deficiency (AATD) is a lack of alpha-1 antitrypsin, a protein made by the liver that is released into the bloodstream. AATD is a genetic disease that can affect the liver or lung.
What causes AATD?
AATD is caused by a mutation of the gene that produces the alpha-1 antitrypsin protein. The alpha-1 protein is designed to protect tissues in the body from being attacked by its own enzymes. Children with AATD either do not 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. Some people with AATD do not have liver disease, and in others severe disease can lead to cirrhosis of the liver. The reasons for this are not fully understood.

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 is AATD diagnosed?
AATD is diagnosed through a simple blood test that measures the level of alpha-1 antitrypsin in the blood. Other tests to check for liver disease may be performed as well, including other blood tests, an ultrasound, or a liver biopsy.
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. In children with liver disease, treatment is aimed at alleviating symptoms.
  • Medicine to relieve itching
  • Medicine to relieve build-up of body fluid
  • Dietary changes and vitamin supplements to ensure appropriate nutrition and help increase energy levels

In situations where liver disease becomes severe, liver transplant may be curative.

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