Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition caused by a faulty gene. Alpha-1 antitrypsin (AAT) is a protein made in the liver that protects the liver and the lungs from damage. In children with AATD, the liver can’t make enough AAT. AATD is the most common inherited cause of liver disease in children. It occurs when a child is born with two copies of the faulty gene (one inherited from each parent). In newborn babies, symptoms of AATD include abdominal swelling, jaundice, and poor appetite.

What to Expect

If your child has been diagnosed with AATD, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help. Here’s what you can expect when you come to us for a consultation.

How quickly can we get an appointment?

An appointment with one of our pediatric liver specialists will be scheduled within a reasonable time based on our child’s condition.

We will ask the referring doctor to send us a copy of your child's medical records as soon as possible. If, after reviewing the records, the doctor thinks it would be helpful if the child were seen sooner, we will find a way to move the first appointment to an earlier date.

Reviewing the child's records ahead of the first appointment allows us to avoid repeating tests that your child has already had and to coordinate visits with other specialists as needed.

To make an appointment, please call Jodie Vento at 412-692-7273 or send an email to

How long should we expect our first visit with the doctor to take?

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

What will happen during our first visit?

Your child will receive a complete evaluation to establish or confirm a precise diagnosis and determine how much the disease has affected the child. The doctor will order blood work and other tests.

We understand that the whole family is affected when a child has a rare disease. You know your child better than anyone else. We see each family as our partner in caring for your child. We think the best approach to caring for a child with a rare disease emerges when we combine our depth of experience in AATD with your expertise in what’s best for your child.

We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. If surgery is an option for your child, we will help you understand what the surgery entails and what you may need to do to prepare for it. We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. Please feel free to ask the doctor any questions you have about your child’s disease, treating and caring for your child, or anything else that is on your mind.

Before the end of your visit, an appointment will be made for one or more follow-up visits. You will also be introduced to our clinical nurse practitioner, who is available by phone or video conference to help you with any concerns you have between now and your next appointment.

We work as a team here at the Center for Rare Disease Therapy. After reviewing your child's medical records and evaluating your child, the doctor may recommend that other doctors and health care professionals here also see your child, if not on the first visit, then on later visits.

How long might we have to wait for test results?

Depending upon the types of tests that the doctor orders, you can expect to receive a phone call within 2 weeks to explain test results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians.

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Contact Us

At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.
For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with AATD, please contact:
Jodie Vento, MGC, LCGC
Phone: +1-412-692-RARE or 412-692-7273

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

Read more

Cholestasis Long-term Observation: The LOGIC Study

Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)

Read more