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- Services and providers for Alpha-1 Antitrypsin Deficiency in the U.S.
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National Institutes of Health
- The primary NIH organization for research on Alpha-1 Antitrypsin Deficiency is the National Heart, Lung, and Blood Institute
Alpha-1 Antitrypsin Deficiency
Also called: AATD, Alpha-1, Inherited emphysema
Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a gene problem, some people have little or none of it. Not having enough AAT puts you at risk of emphysema or liver problems. Three in four adults with a severe deficiency will get emphysema, some when they are younger than 40. If you smoke, you increase your risk. Children with AAT deficiency can develop liver problems that last their whole lives.
AAT deficiency can be treated but not cured. One treatment involves adding to or replacing the missing protein. A lung transplant may be an option if you are seriously ill. Staying away from cigarette smoke is crucial.
A blood test can tell if you have the deficiency. If you have it, your family members should also take the blood test.
Start Here
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Alpha-1 Antitrypsin Deficiency
(National Heart, Lung, and Blood Institute)
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Genetics Home Reference: Alpha-1 antitrypsin deficiency(National Library of Medicine)
| Basics | Learn More | Multimedia & Cool Tools |
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Overviews
- Alpha-1 Antitrypsin Deficiency(American Liver Foundation)
- Guide for the Recently Diagnosed Individual: Alpha-1 Antitrypsin Deficiency(Alpha One Foundation) - Large PDF file
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Learning about Alpha-1 Antitrypsin Deficiency (AATD)(National Human Genome Research Institute)
- What is Alpha-1?(Alpha One Foundation)
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Diagnosis/Symptoms
- Alpha-1 Antitrypsin(American Association for Clinical Chemistry)
- Alpha-1: Get Tested(Alpha One Foundation) - Links to PDF
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Disease Management
- Alpha-1 Health Tips(Alpha One Foundation)
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Related Issues
- Alpha-1 Antitrypsin Deficiency Emphysema(American Lung Association)
- Liver and Alpha-1(Alpha One Foundation) - Links to PDF
- What Does It Mean to Be an Alpha-1 Carrier?(Alpha One Foundation) - Links to PDF
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Clinical Trials
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ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency(National Institutes of Health)
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ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency
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Genetics
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Genetics Home Reference: Alpha-1 antitrypsin deficiency(National Library of Medicine)
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Genetics Home Reference: Alpha-1 antitrypsin deficiency
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Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Demyelinating sensorimotor polyneuropathy associated with the use of sirolimus: a...
- Article: Alpha-1-antitrypsin deficiency: outcomes after liver transplantation.
- Article: Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.
- Alpha-1 Antitrypsin Deficiency -- see more articles
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Directories
- Alpha-1 Clinical Resource Centers (CRCs)(Alpha One Foundation)
- Organizations Return to top
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Date last updated: 10 July 2008 Topic last reviewed: 25 August 2008 |