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.