Alpha-1-Antitrypsin Deficiency

  • Is an uncommon, genetic condition that causes the liver to retain alpha-1 antitrypsin
  • Can be diagnosed by a doctor’s physical exam and blood test. Liver biopsy or ultrasound may be ordered
  • Can present and cause liver problems in infants, children or adults
  • Liver may be gradually damaged and scarred and may progress to cirrhosis, liver failure
  • Transplant is curative

Signs & Symptoms:

  • In babies, symptoms include jaundice (eyes and skin turning yellow) swelling of the abdomen, and poor growth
  • Older children and adults may experience the above and may report feeling weak and tired
  • Most children and adults with alpha-1 have no symptoms of liver disease at all

Treatment and Follow-up:

 Although there is no cure for Alpha-1, there are ways to prevent or reduce health problems related to Alpha-1. People with Alpha-1 should do the following:

  • get hepatitis A and B vaccinations
  • get regular exams by a doctor
  • get regular medical tests as suggested by their doctors, such as blood tests and liver ultrasound or X-ray tests – for example, liver CT (CAT) scans
  • stay away from tobacco smoke and heavy air pollution
  • avoid drinking alcohol
  • eat a balanced diet and maintain a healthy weight
  • speak to your doctor before using any herbal, vitamin or other therapies