Children's Hospital Colorado

Alpha-1 Antitrypsin Deficiency

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin (AAT) deficiency is the most common genetic disorder leading to liver disease in infants and children. About 10 to 15% of children with alpha-1 antitrypsin deficiency will develop liver disease. In adults, it may also cause a serious lung disease called emphysema.

The deficiency is genetic, meaning that children inherit it from their parents.

What causes alpha-1 antitrypsin deficiency?

Genes make up our deoxyribonucleic acid (DNA), which acts as a blueprint for the body, telling it how to form and function. Alpha-1 antitrypsin deficiency is caused by mutations in the SERPINA1 gene that contains the instructions to make the alpha-1 antitrypsin protein.

Alpha-1 antitrypsin proteins are made in large amounts by the liver and put into the bloodstream to be distributed to the rest of the body. Because of these mutations in the SERPINA1 gene, the alpha-1 antitrypsin protein gets stuck in the liver, which causes inflammation (swelling) that can damage the liver.

Who gets alpha-1 antitrypsin deficiency?

Children inherit AAT deficiency from their parents. In general, people with the deficiency inherit one mutated copy of the SERPINA1 gene from each of their parents. It occurs in about one in every 3,500 births in the United States and is more common in Caucasians.

What are the signs and symptoms of alpha-1 antitrypsin deficiency?

Doctors can detect AAT deficiency from abnormal liver enzyme test results, but the more obvious signs come after an AAT deficiency has led to liver disease. Symptoms may include:

  • Abnormal liver enzyme tests
  • Yellowing of the skin or eyes, known as jaundice
  • Swelling of the abdomen with fluid
  • Poor growth
  • Vitamin deficiencies

What tests are used to diagnose alpha-1 antitrypsin deficiency?

At Children’s Hospital Colorado, we diagnose AAT deficiency by testing for the amount and type of alpha-1 antitrypsin in the blood (alpha-1 antitrypsin level and phenotypes). We can perform this with a standard blood draw.

What to expect from alpha-1 antitrypsin level and phenotype test

The alpha-1 antitrypsin level and phenotype test requires a standard blood draw, and results are generally available within 14 days.

Here, because we work with kids and only kids, we use a smaller needle made specially for child-sized veins to perform the blood draw. Our child life specialists are also excellent at distracting children with a cartoon or a toy, so the test is often over before they know it – making the experience less stressful for the entire family.

How do we diagnose alpha-1 antitrypsin deficiency?

We diagnose alpha-1 antitrypsin deficiency when a child has the mutated form (Z-type) of the protein, which we determine by examining the blood under a microscope in our pathology lab.

How is alpha-1 antitrypsin deficiency treated?

At Children’s Colorado, we care for children who have contracted liver disease from alpha-1 antitrypsin deficiency in our Pediatric Liver Center in the Digestive Health Institute. Doctors in the Pediatric Liver Center closely monitor children for normal growth, vitamin deficiencies and scarring of the liver. While there is no treatment to fix the mutated gene, we can provide medicine that helps to improve jaundice and itching, as well as vitamin supplements to raise low levels.

Some children develop serious liver disease that will require liver transplant. The Liver Transplant Program at Children’s Colorado has decades of experience diagnosing and treating kids with alpha-1-antitrypsin deficiency.

Why choose us for treatment of alpha-1 antitrypsin deficiency?

At Children’s Colorado, your child will receive care for alpha-1-anti-trypsin deficiency from renowned physicians with specific expertise in pediatric liver disease. In addition, Children’s Colorado is a leader in the Childhood Liver Disease Research Network, including the study of alpha-1-antitryspin deficiency.

Helpful resources

  • Children’s Colorado is a part of the Childhood Liver Disease Research Network (ChiLDReN), which is a collaborative team of doctors, nurses, research coordinators, medical facilities and patient support organizations.
  • The Alpha-1 Foundation is committed to finding a cure for alpha-1 antitrypsin deficiency and to improving the lives of people affected by alpha-1 worldwide.
  • The Alpha-1 Global works to increase awareness of alpha-1 antitrypsin deficiency to help doctors make earlier diagnoses and improve care standards for those with AAT deficiency.