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Alpha-1 antitrypsin (AAT) 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.
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.
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.
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:
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.
AAT deficiency cannot be prevented, but you can take steps to manage your disease.
To learn more about the Alpha-1 Clinic at Norton Thoracic Institute, call 602.406.9100 or email [email protected]lth.org.
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.