Alpha-1 Antitrypsin Deficiency

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Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD, or simply alpha-1), is an inherited genetic disorder that may cause lung disease in adults and liver disease at any age. For people with this condition, the abnormal alpha-1 antitrypsin protein builds up in the liver instead of being released normally into the body. The condition affects about 1 in every 2,500 people in the United States, though many of them remain healthy. A simple blood test can reveal signs of abnormal alpha-1 antitrypsin, which place patients at risk for developing the disease. A saliva test is available at some medical centers.

AATD is one of the most common genetic causes for COPD (chronic obstructive pulmonary disease) and emphysema, which is a lung disease caused by damage to the small air sacs in the lungs. People with AATD usually develop the first signs and symptoms of lung disease between the age of 20 and 50. The most common early symptoms are shortness of breath following mild activity, difficulty exercising, and wheezing. Other symptoms can include persistent allergies, frequent respiratory infections, and cough (with or without coughing up saliva and mucus).

About 10% of infants with AATD develop liver disease, which often causes yellowing of the skin and the whites of the eyes (jaundice). Roughly 15% of adults with AATD develop liver damage (cirrhosis) due to abnormal alpha-1 antitrypsin proteins accumulating in the liver. Patients with cirrhosis may have no symptoms, or they may develop complications such as a swollen abdomen, swollen feet or legs, and jaundice. People with AATD and cirrhosis also can develop liver cancer (hepatocellular carcinoma). There is no cure for AATD, but it may be treated with regular intravenous (IV) protein treatments and with other therapies designed to ease the symptoms. New treatments are being developed.

UAB Medicine is designated as an Alpha-1 Clinical Resource Center by the Alpha-1 Foundation due to our expertise in advanced COPD, hepatology, lung and liver transplants, and cutting-edge research. Our physicians have experience in all aspects of AATD, from testing and diagnosis to monitoring, treatment, education, and research. Patients with lung and/or liver disease, along with family members of those with AATD, should be tested. Those diagnosed with AATD can self-refer to our Alpha-1 Clinic for treatment, where we offer pulmonology and hepatology expertise as well as genetic counseling.

Patients may be treated with intravenous (IV) protein treatments, known as augmentation therapy, which can help slow or prevent lung damage. UAB is a major center for AATD research, including studies of promising new treatments that target both the lungs and the liver. Current studies focus on gene therapy, alternative augmentation therapies, and oral therapies, such as neutrophil elastase inhibitors. Patients with AATD and their family members may be offered the opportunity to participate in these research studies.

The Alpha-1 Clinic is operated by the UAB Division of Pulmonary, Allergy, and Critical Care Medicine, which is consistently recognized among the best programs of its kind by U.S. News & World Report. It is widely known for its treatment and research of airway diseases, especially COPD. Our medical team includes nationally recognized pulmonologists, advanced practice nurses, respiratory therapists, exercise physiologists, physiatrists, physical therapists, and other professionals who provide the compassionate care you deserve. The Alpha-1 Clinic also works closely with UAB hepatology specialists, who offer comprehensive care for patients with AATD-related liver disease.

UAB offers a unique treatment path for patients with COPD. At our dedicated Pulmonary Clinic, patients receive a full evaluation, a complete treatment plan, and state-of-the-art therapy. For your convenience, a nurse practitioner manages patient care and is available for patient phone calls and care of sick patients during office visits. We consider patient education to be a priority in your care. Patients who are admitted to UAB Hospital (including UAB Hospital-Highlands) with a COPD diagnosis may be enrolled in a care management project that provides enhanced discharge planning services to help you manage your condition after returning home. In addition, the UAB Lung Health Center offers new drugs and therapies through clinical research trials, and advanced treatments such as lung reduction and lung transplantation are available to qualified patients.