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 (National Heart, Lung, and Blood Institute)
- Learning about Alpha-1 Antitrypsin Deficiency (AATD) (National Human Genome Research Institute)
Diagnosis and Tests
- Alpha-1 Antitrypsin Test (American Association for Clinical Chemistry)
- Alpha-1 Antitrypsin Deficiency (Inherited Emphysema) (National Jewish Health) - PDF
- Genetics Home Reference: alpha-1 antitrypsin deficiency (National Library of Medicine)
- ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Experimental and investigational drugs for the treatment of alpha-1 antitrypsin deficiency.
- Article: Generalized emphysema and chronic obstructive pulmonary disease in a farmer, non-smoker...
- Article: Protein modeling to assess the pathogenicity of rare variants of SERPINA1...
- Alpha-1 Antitrypsin Deficiency -- see more articles