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)
- Alpha-1 Antitrypsin Deficiency (Inherited Emphysema) (National Jewish Health) - PDF
- Alpha-1 antitrypsin deficiency: MedlinePlus Genetics (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: The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed...
- Article: Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases.
- Article: COVID-19 infection in severe Alpha 1-antitrypsin deficiency: Looking for a rationale.
- Alpha-1 Antitrypsin Deficiency -- see more articles