Alpha-1 Antitrypsin Deficiency (AATD) | 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.