Alpha-1 Antitrypsin Deficiency, Pediatric

Christine K. Lee Reviewed 06/2017



  • Alpha-1 antitrypsin (AAT) is a serine protease inhibitor and a 55-kd glycoprotein which is primarily synthesized in the liver and released into the circulation.

  • AAT is the main inhibi...



  • Highly variable presentation in neonates and young children

  • Most infants develop cholestatic jaundice, hepatosplenomegaly, poor feeding, and poor weight gain.

  • Jaundice typically improve...


  • There is no specific treatment for the liver disease associated with AAT deficiency.

  • Management involves supportive care to try to prevent complications of chronic liver disease.

  • Patients with...

Ongoing Care

Follow-up Recommendations

Patient Monitoring

  • Annual liver and pulmonary function testing

  • Surveillance for hepatocellular carcinoma in Pi ZZ patients is suggested, but consensus on frequency ...

Additional Reading

  • Miranda  E, Pérez  J, Ekeowa  UI, et al. A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with α1-antitrypsin deficiency. Hepatology. ...



  • 273.4 Alpha-1-antitrypsin deficiency


  • E88.01 Alpha-1-antitrypsin deficiency


  • 30188007 alpha-1-Antitrypsin deficiency (disorder)


  • Q: Do all patients with presumed AAT require liver biopsy for diagnosis?

  • A: No. A liver biopsy is not required for diagnosis but may help be performed to support it.

  • Q: Are PAS-positive, diastase-re...

Subscribe to Access Full Content

Sign Up for a 10-Day Free Trial

Sign up for a 10-day FREE Trial now and receive full access to all content.