What Is Alpha-1 Antitrypsin Deficiency (AATD)?

AADT is an inherited disease of the liver and lungs that causes:

  • Defective production of alpha-1 antitrypsin (A1AT) — an enzyme that the liver makes.
  • Decreased A1AT activity in the blood and lungs. A1AT protects the lungs 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.

How Do You Diagnose 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 AATD treatment in the liver and lungs is to manage symptoms and complications.

Alpha-1 liver disease treatment

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

At UPMC Children’s Hospital of Pittsburgh, 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 (CRDT) 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 us for your child's AATD consult.

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

We’ll schedule an appointment with one of our pediatric liver specialists within a reasonable time based on your 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 lets us:

  • 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.

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 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.

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.

Before the end of your visit, we will schedule one or more follow-up visits. If surgery is a treatment option, we'll help you learn what the surgery entails and how to prepare for it.

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

How long might we have to wait for my child’s test results?

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

Test results are also on MyCHP — Children's patient portal. MyCHP is free for UPMC Children’s Hospital of Pittsburgh 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 occurs when we combine our AATD knowledge with your expertise in what’s best for your child.

Center for Rare Disease Therapy patient storiesMeet Our Rare Disease Center Patients

Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.

View Center for Rare Disease Therapy patient stories »

Contact Us About Your Child’s AADT

At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

For an appointment, consult, or referral, contact us:

We’ll be in touch within 2 business days.