What is Alpha-1 Antitrypsin Deficiency (AATD)?

Alpha-1 antitrypsin deficiency (AADT) is an inherited disease of the liver and lungs.

AATD causes:

  • Defective production of alpha-1 antitrypsin (A1AT) — an enzyme that the liver makes.
  • Decreased A1AT activity in the blood and lungs. A1AT's main function in the lungs is to protect from inflammation and infection caused by inhaled irritants, such as tobacco smoke.
  • A build-up of extra abnormal A1AT protein in liver cells. This excess A1AT causes liver disease.

How Common is AATD?

AATD is one of the most common genetic liver diseases. Most people develop the disease after age 20.

AATD affects about:

  • 1 in every 1500 to 3500 people.
  • 1 in 2000 babies.

It occurs most often in Caucasians of European descent.

Symptoms of Alpha-1 Antitrypsin Deficiency

AADT symptoms include:

  • Jaundice — yellow appearance of the skin and whites of the eyes at birth.
  • Foul-smelling or pale, almost white stools.
  • Cirrhosis of the liver.
  • Poor weight gain.
  • Problems nursing.
  • Slow eating or loss of appetite.
  • Vomiting, nausea, or reflux.
  • Itching.
  • Enlarged spleen, belly.
  • Lack of energy.

AADT liver damage symptoms

In children who are born with this disorder, about 10 percent will end up with severe liver damage.

Symptoms that signal liver damage include:

  • Jaundice.
  • Enlarged belly.
  • Swelling of the feet and legs.

Diagnosing Alpha-1 Antitrypsin Deficiency

A blood test can easily diagnose AATD. Your child's doctor will also need to perform an exam and learn his or her medical history.

If the doctor diagnoses AATD, your child will need other tests to see if the disease is affecting the liver.

These tests may include:

Alpha-1 Antitrypsin Deficiency Treatment

The main goal of treating AATD in the liver and lungs is to manage the symptoms and complications of this disease.

Alpha-1 liver disease treatment

You may need to avoid giving your child any medicine that can cause or worsen liver damage.

At Children’s Hospital of Pittsburgh of UPMC, one of the treatment options for severe AATD is a liver transplant.

A liver transplant is a high-risk surgery but is vital for some children.

Alpha-1 lung disease treatment

To help prevent lung damage from AATD, some children will need to:

  • Take a drug that replaces the antitrypsin that the body can't make on its own.
  • Avoid certain environmental risk factors, like tobacco smoke.

Your Child's AATD Consult and Care: What to Expect

If your child has alpha-1 antitrypsin deficiency, we want you to know that you're not alone. The Center for Rare Disease Therapy is here to help.

To make an appointment for your child or refer a patient for AATD, contact a Genetic Counselor by:

Here’s what you can expect when you come to the Center for Rare Disease Therapy for your child's AATD consult.

How fast can I get an appointment for my child's alpha-1 antitrypsin deficiency?

We will schedule an appointment with one of our pediatric liver specialists within a reasonable time based on our child’s condition.

We'll ask the referring doctor to send us your child's medical records as soon as possible for our review.

Looking over your child's records ahead of time allows us to:

  • Move the first appointment to an earlier date if the doctor thinks it might help to see your child sooner.
  • Avoid repeating tests that your child has already had.
  • Arrange visits with other specialists as needed.

To make an appointment, call 412-692-7273 or email the Center for Rare Disease Therapy at Children's Hospital of Pittsburgh.

What will happen during our first visit for AADT?

You can expect your first visit to take about 3 to 4 hours.

Your child will receive a complete exam to make or confirm a precise AADT diagnosis. The doctor will also order blood work and other tests to find out how much the disease has affected your child.

We'll talk with you about:

  • What to expect and next steps for your child in the near future.
  • Options for treating and caring for your child's AADT.
  • What you can do at home to care for your child and improve his or her quality of life.

If surgery is an option for your child, we'll help you learn what the surgery entails and how to prepare for it.

The doctor may want your child to see other rare disease experts here at the center. If not on the first visit, then on later visits.

Feel free to ask the doctor any questions about AADT, treating and caring for your child, or anything else on your mind.

Before the end of your visit, we will schedule one or more follow-up visits.

You will also meet our clinical nurse practitioner (NP). You can contact the NP by phone or video conference with any concerns you have between now and your next appointment.

How long might we have to wait for test results?

You can expect to receive a phone call within 2 weeks to explain your child's test results and discuss next steps.

Test results are also made available on myCHP — Children's patient portal. myCHP is free for patients, parents, and guardians.

Partners in Your Child's AADT Care

When a child has a rare disease, it affects the whole family.

You know your child better than anyone else. At the Center for Rare Disease Therapy, we see each family member as our partner in care.

The best treatment approach emerges when we combine our depth of AATD knowledge with your expertise in what’s best for your child.

Contact us to make an appointment or learn more about your child's AATD:


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Clinical Studies

Alpha-1 Antitrypsin Deficiency Study – Phase II

A Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1-Antitrypsin Deficiency

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Cholestasis Long-term Observation: The LOGIC Study

Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)

Read more