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
- 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
- Alpha-1 Antitrypsin Deficiency (American Liver Foundation)
- Alpha-1 Antitrypsin Deficiency (National Heart, Lung, and Blood Institute)
- Guide for the Recently Diagnosed Individual: Alpha-1 Antitrypsin Deficiency (Alpha One Foundation) - PDF
- Learning about Alpha-1 Antitrypsin Deficiency (AATD) (National Human Genome Research Institute)
- What Is Alpha-1 Antitrypsin Deficiency? (American Thoracic Society) - PDF
- Alpha-1 Antitrypsin Test (American Association for Clinical Chemistry)
- How Is Alpha-1 Antitrypsin Deficiency Diagnosed? (National Heart, Lung, and Blood Institute)
- What Are the Signs and Symptoms of 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 Alpha-1 Antitrypsin Deficiency (National Heart, Lung, and Blood Institute)
- Alpha-1 Antitrypsin Deficiency (Inherited Emphysema) (National Jewish Health) - PDF
- How Can Alpha-1 Antitrypsin Deficiency Be Prevented? (National Heart, Lung, and Blood Institute)
- Panniculitis (Alpha One Foundation)
- What Does It Mean to Be an Alpha-1 Carrier? (Alpha One Foundation) - PDF
- Who Is at Risk for Alpha-1 Antitrypsin Deficiency? (National Heart, Lung, and Blood Institute)
- Alpha-1 Antitrypsin Deficiency: It's All in the Family (Alpha 1 Association) - PDF
- Genetics Home Reference: Alpha-1 antitrypsin deficiency (National Library of Medicine)
- What Causes Alpha-1 Antitrypsin Deficiency? (National Heart, Lung, and Blood Institute)
Statistics and Research
- Participate in Research Programs (Alpha One Foundation)
- ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Current concepts in targeting chronic obstructive pulmonary disease pharmacotherapy: making...
- Article: Alpha-1 antitrypsin deficiency, SZ phenotype: a rare type of a...
- Article: Immune activation in α1-antitrypsin-deficiency emphysema. Beyond the protease-antiprotease paradigm.
- Alpha-1 Antitrypsin Deficiency -- see more articles