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Alpha-1 antitrypsin deficiency (AADT) is an inherited disease of the liver and lungs.
AATD is one of the most common genetic liver diseases. Most people develop the disease after age 20.
AATD affects about:
It occurs most often in Caucasians of European descent.
AADT symptoms include:
In children who are born with this disorder, about 10 percent will end up with severe liver damage.
Symptoms that signal liver damage include:
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:
The main goal of treating AATD in the liver and lungs is to manage the symptoms and complications of this disease.
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.
To help prevent lung damage from AATD, some children will need to:
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.
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:
To make an appointment, call 412-692-7273 or email the Center for Rare Disease Therapy at Children's Hospital of Pittsburgh.
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:
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.
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.
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:
Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.
View patient stories »
A Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1-Antitrypsin Deficiency
Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
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