Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin (AAT) Deficiency is a genetic condition, resulting in serious liver disease in infants, children and adults and potentially worsening lung problems in adults. Alpha-1 affects about 100,000 people in the United States.

SSM Health Cardinal Glennon Children's Hospital is one of the nation's leading centers for AAT deficiency research. Our SLUCare Physician Group team of gastroenterologists is actively developing treatments for Alpha-1 and a range of cholestatic liver diseases.

Signs & Symptoms of Alpha-1

Alpha-1 Antitrypsin is a protein that protects your lungs from inflammation due to infection or inhaled irritants such as smoke. With AAT deficiency, protein builds up in the liver instead of being released into the bloodstream, causing toxicity in the liver and making the lungs more susceptible to disease.

In infants, symptoms may include:

• Jaundice (eyes and skin turning yellow)
• Swollen belly
• Poor growth
• Diarrhea
• Lack of normal weight gain

Older children and adults with Alpha-1 liver disease may also experience the above symptoms and can report feeling weak and tired. Additional signs include:

• Unexplained liver disease or elevated liver enzymes
• Swelling of the abdomen (ascites) or legs
• Vomiting blood (from enlarged veins in the esophagus or stomach)

Diagnosing Alpha-1

A simple blood test will confirm an Alpha-1 diagnosis. Your child’s doctor may also order genetic testing in addition to an ultrasound or CT scan to check for lung- or liver-related conditions.

Early diagnosis of Alpha-1 is key to preventing complications such as cirrhosis (severe liver scarring) or liver cancer.

Treating Alpha-1

While there is no cure for Alpha-1, we offer the most advanced treatment options and follow-up care to keep your child as healthy as possible.

Our team might recommend:

• Medication and nutritional support to reduce swelling in the belly, internal bleeding, and scarring of the liver and other related health problems.
• Some children with cirrhosis caused by Alpha-1 may require a liver transplant. Our surgeons are national leaders in liver transplantation and have some of the highest survival rates of any hospital.

To help improve outcomes, children with Alpha-1 must get Hepatitis A and B vaccinations in addition to their regular exams and medical tests. They must also:

• Avoid tobacco smoke and heavy air pollution
• Avoid drinking alcohol
• Eat a balanced diet and maintain a healthy weight

Be sure to consult with your child’s doctor before using any herbal, vitamin or alternative therapies.

If your child has AAT our advanced Pediatric Gastroenterology and Hepatology program can help. Working with specialists across disciplines, we will develop a treatment plan appropriate for your child and their overall wellness.

Alpha-1 Research Studies & Clinical Trials

Our Alpha-1 research has resulted in more than 20 years of breakthroughs. Depending on your child’s situation, they might be eligible for one of our clinical trials for AAT deficiency. SSM Health Cardinal Glennon and Saint Louis University are part of a leading network of hospitals studying Alpha-1 and can offer your child the best treatment available.

For more information about AAT studies, visit the Childhood Liver Disease Research Network.