Alpha-1 Antitrypsin Deficiency Also called: AATD, Alpha-1, Inherited emphysema Summary Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren’t the right shape, they get stuck in the liver cells and can’t reach the lungs. Symptoms of AAT deficiency include Shortness of breath and wheezing Repeated lung infections Tiredness Rapid heartbeat upon standing Vision problems Weight loss Some people have no symptoms and do not develop complications. Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms. NIH: National Heart, Lung, and Blood Institute National Heart, Lung, and Blood Institute Start Here Alpha-1 Antitrypsin Deficiency American Liver Foundation Alpha-1 Antitrypsin Deficiency National Heart, Lung, and Blood Institute Learning about Alpha-1 Antitrypsin Deficiency (AATD) National Human Genome Research Institute Array Alpha-1 antitrypsin deficiency Alpha-1 antitrypsin test Related Issues Alpha-1 Antitrypsin Deficiency (Inherited Emphysema) National Jewish Health How Can Alpha-1 Antitrypsin Deficiency Be Prevented? National Heart, Lung, and Blood Institute Who Is at Risk for Alpha-1 Antitrypsin Deficiency? National Heart, Lung, and Blood Institute Diagnosis and Tests Alpha-1 Antitrypsin Test American Association for Clinical Chemistry How Is Alpha-1 Antitrypsin Deficiency Diagnosed? National Heart, Lung, and Blood Institute Clinical Trials ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency National Institutes of Health Genetics Genetics Home Reference: alpha-1 antitrypsin deficiency National Library of Medicine What Causes Alpha-1 Antitrypsin Deficiency? National Heart, Lung, and Blood Institute Treatments and Therapies How Is Alpha-1 Antitrypsin Deficiency Treated? National Heart, Lung, and Blood Institute Living With Living with Alpha-1 Antitrypsin Deficiency National Heart, Lung, and Blood Institute Find an Expert National Heart, Lung, and Blood Institute National Heart, Lung, and Blood Institute Journal Articles Alpha-1 Antitrypsin Deficiency Symptoms What Are the Signs and Symptoms of Alpha-1 Antitrypsin Deficiency? National Heart, Lung, and Blood Institute
