Alpha-1 Antitrypsin Deficiency (AATD) | Symptoms & Causes
Alpha-1 Antitrypsin Deficiency (AATD) | Diagnosis & Treatments
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
How is AATD treated?
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.
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.
