Alpha-1 Antitrypsin (AAT) Deficiency

Alpha-1 antitrypsin (AA)T is a protein produced in the liver that travels through the bloodstream and protects your lungs from damage. AAT deficiency is a genetic disease that causes the liver to produce fewer or abnormal AAT proteins. ATT deficiency leaves the lungs and other organs more susceptible to disease and the liver at risk for cirrhosis due to the accumulation of abnormal protein in the liver cells.

The actual number of people with AAT deficiency is unknown, but estimates range from 1 in 1,600 to 1 in 5,000. Some people have mild versions of ATT deficiency with few complications; however, others develop serious complications like emphysema, respiratory failure, or cirrhosis.

“While currently there is no cure for AAT deficiency, our team offers treatment that greatly improves the lives of people with this disease,” says Dr. Rajat Walia, Director of the Alpha-1 Clinic at Norton Thoracic Institute, an Alpha-1 Foundation Clinical Resource Center. “One form of treatment involves replacing the missing protein via an intravenous infusion.”

Norton Thoracic Institute is a Clinical Resource Center (CRC), one of only a few centers in the nation with recognition from the Alpha-1 Foundation for expertise in the comprehensive care of this disorder.

Symptoms 

Diagnosing AAT deficiency can be difficult because its symptoms are similar to those of many other diseases. These symptoms include shortness of breath, wheezing, chronic cough, frequent lung infections, liver disease, swelling of the abdomen or legs, and ulcers of the skin. ATT deficiency can only be diagnosed by a genetic test: it is a laboratory diagnosis, not a clinical diagnosis.

Diagnosis

In many cases, it can take several years and many doctor’s appointments before AAT deficiency is recognized. The lung specialists at Norton Thoracic Institute use blood tests and other exams to reach a diagnosis.

  • Blood testing determines whether the levels of AAT proteins in your body are low and whether you have one of the genes that cause AAT deficiency.
  • CT scans, pulmonary function tests, and/or other testing may be needed to determine whether you have lung disease and to assess its severity.

Treatment

The primary treatment for alpha-1 antitrypsin deficiency disorder is management of the lung disorder with bronchodilators, inhaled steroids, supplemental oxygen, pulmonary rehabilitation, adequate nutrition, and preventive immunizations as indicated.

Many patients with ATT deficiency receive alpha-1 protein replacement. This treatment increases the level of alpha-1 protein in your lungs, protecting them from further damage. Patients receive infusions of AAT protein each week at home or, if they prefer, at the Norton Infusion Center.

Other treatments that can improve your lung function and reduce the frequency and severity of lung infections include:

  • Medications to treat preexisting lung damage and to prevent more damage
  • Antibiotics to treat lung infections, as well as flu and pneumonia vaccines to prevent future infections
  • Routine liver checks for some patients, such as those with the ZZ genotype.

AAT deficiency progressively worsens over time, and some patients may ultimately need lung transplantation. Norton Thoracic Institute has Arizona’s and the western United States’ premier lung transplant center—one of the largest lung transplant centers in the world. The Norton Lung Transplant Center is known for streamlined processes that result in shorter waits for transplantation and exceptional outcomes.

The treatment for AAT liver disease includes weight loss, alcohol abstinence, preventive immunizations against hepatitis viruses, and avoidance of drugs toxic to the liver. In advanced cases, patients may need liver transplantation, which is a cure for alpha-1 antitrypsin deficiency. We work closely with the St. Joseph’s hepatology team and liver transplant program to coordinate care for alpha-1 patients with liver disease. You can receive comprehensive, multidisciplinary care all under one roof.

Prevention

AAT deficiency cannot be prevented, but you can take steps to manage your disease.

  • See your doctor regularly and follow your care plan.
  • If you smoke, quit now. Smoking greatly increases your risk of developing lung infections and diseases.
  • Check your home and work environments for substances that could worsen your condition (s)uch as chemical fumes, dust, pollen, and ash.
  • Get regular vaccinations for flu and pneumonia.
  • Eat a healthy diet.
  • Talk to your doctor about how to remain physically active.
  • Learn how to reduce and manage stress.
  • Talk to others about your disease. Tell your friends and relatives how you feel and how they can help. Connect with others who have AAT deficiency. Attend support group meetings.

Learn More About AAT Deficiency Services at Norton Thoracic Institute

To learn more about the Alpha-1 Clinic at Norton Thoracic Institute, call (602) 406-9100 or email [email protected].

Norton Thoracic Institute is a Clinical Resource Center (CRC), one of a few centers in the U.S. recognized by the Alpha-1 Foundation for offering expertise in the comprehensive care of alpha-1 antitrypsin deficiency.