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Alpha–1–Antitrypsin Deficiency (A1AD)

Alpha-1 or A1AD s is an inherited disease (passed from parent to child) caused by low levels of a protein called alpha-1-antitrypsin (A1AT). A1AT is found in the blood and plays an important role in preventing the breakdown of enzymes in the body’s organs. When the body lacks A1AT, substances that break down protein attack other tissue in the body. This causes liver damage.

Did You Know?

Alpha-1 is the most common inherited disease that leads to pediatric liver transplant. Approximately 10 to 15 percent of all liver transplant candidates have Alpha-1 abnormalities.

Symptoms

Common symptoms of Alpha-1 liver disease include:

  • Jaundice
  • Cirrhosis
  • Portal hypertension
  • Fatigue
  • Loss of appetite
  • Poor growth
  • Reflux
  • Elevated liver enzymes
  • Unexplained liver problems

Diagnosis

Alpha-1 is diagnosed through blood tests to measure alpha-1-antitrypsin (A1AT) levels in your child’s blood. Your child may also have other tests such as:

  • Ultrasound
  • CT scan
  • X-ray
  • Liver biopsy

Treatment

Many children with Alpha-1 can live a relatively normal life through proper nutrition and early identification of complications. For the other percentage of children, a liver transplant may be necessary. When a child with Alpha-1 receives a liver transplant, the new donor liver will make normal levels of A1AT, essentially curing Alpha-1.