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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
Diagnosis and Tests
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Alpha-1 Antitrypsin Test
(National Library of Medicine) Also in Spanish
Related Issues
- Alpha-1 Antitrypsin Deficiency (Inherited Emphysema) (National Jewish Health) - PDF
Genetics
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Alpha-1 antitrypsin deficiency: MedlinePlus Genetics
(National Library of Medicine)
Clinical Trials
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ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency
(National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: COVID-19's impact on care practice for alpha-1-antitrypsin deficiency patients.
- Article: The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results...
- Article: Registry-based cohort study of alpha-1 antitrypsin deficiency prevalence, incidence and mortality...
- Alpha-1 Antitrypsin Deficiency -- see more articles
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Patient Handouts
- Alpha-1 antitrypsin deficiency (Medical Encyclopedia) Also in Spanish
- Alpha-1 antitrypsin test (Medical Encyclopedia) Also in Spanish