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Alpha-1 Antitrypsin Deficiency
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
Patient Handouts
- Alpha-1 antitrypsin blood test Medical Encyclopedia
- Alpha-1 antitrypsin deficiency Medical Encyclopedia
Start Here
- Alpha-1 Antitrypsin Deficiency National Heart, Lung, and Blood Institute
- Learning about Alpha-1 Antitrypsin Deficiency (AATD) National Human Genome Research Institute
Related Issues
- Alpha-1 Antitrypsin Deficiency (Inherited Emphysema) National Jewish Health
Genetics
- Alpha-1 antitrypsin deficiency: MedlinePlus Genetics National Library of Medicine
Diagnosis and Tests
- Alpha-1 Antitrypsin Test National Library of Medicine
Clinical Trials
- ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency National Institutes of Health
Find an Expert
- National Heart, Lung, and Blood Institute National Heart, Lung, and Blood Institute