Also called: 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.
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Alpha-1 Antitrypsin Deficiency
(National Heart, Lung, and Blood Institute) - http://www.nhlbi.nih.gov/health/dci/Diseases/aat/aat_whatis.html
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Genetics Home Reference: Alpha-1 antitrypsin deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency
- Alpha-1 Antitrypsin Deficiency(American Liver Foundation) - http://www.liverfoundation.org/education/info/alphaone/
- Guide for the Recently Diagnosed Individual: Alpha-1 Antitrypsin Deficiency(Alpha One Foundation) - Large PDF file - http://www.alphaone.org/files/Recently_Diagnosed.pdf
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Learning about Alpha-1 Antitrypsin Deficiency (AATD)(National Human Genome Research Institute) - http://www.genome.gov/19518992
- What is Alpha-1?(Alpha One Foundation) - http://www.alphaone.org/alphas/?c=01-What-is-Alpha-1-Alphas
- Alpha-1 Antitrypsin(American Association for Clinical Chemistry) - http://www.labtestsonline.org/understanding/analytes/alpha1_antitrypsin/test.html
- Alpha-1: Get Tested(Alpha One Foundation) - Links to PDF - http://www.alphaone.org/alphas/get-tested-act
- Alpha-1 Health Tips(Alpha One Foundation) - http://www.alphaone.org/alphas/?c=03-Health-Tips
- Alpha-1 Antitrypsin Deficiency Emphysema(American Lung Association) - http://www.lungusa.org/site/apps/nlnet/content3.aspx?c=dvLUK9O0E&b=2058817&content_id={54DBE29B-FD26-4854-B918-AA66BA87503F}¬oc=1
- Liver and Alpha-1(Alpha One Foundation) - Links to PDF - http://www.alphaone.org/files/The_Liver.pdf
- What Does It Mean to Be an Alpha-1 Carrier?(Alpha One Foundation) - Links to PDF - http://www.alphaone.org/files/Carrier.pdf
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ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22alpha+1-Antitrypsin+Deficiency%22
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Genetics Home Reference: Alpha-1 antitrypsin deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency
- Article: Liver disease in alpha 1-antitrypsin deficiency: a review. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18796107&tool=MedlinePlus
- Article: Efficacy of the detection of the alpha1-antitrypsin "Z" deficiency variant... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18794049&tool=MedlinePlus
- Article: alpha1-antitrypsin (A1AT) deficiency presenting with IgA nephropathy and nephrotic syndrome:... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18793532&tool=MedlinePlus
- Alpha-1 Antitrypsin Deficiency -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=alpha+1-antitrypsin+deficiency[majr]+AND+english[la]+AND+humans[mh]+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- Alpha-1 Clinical Resource Centers (CRCs)(Alpha One Foundation) - http://www.alphaone.org/alphas/?c=05-Clinical-Resource-Centers-CRCs-Alphas
- Alpha One Foundation - http://www.alphaone.org/
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National Heart, Lung, and Blood Institute - http://www.nhlbi.nih.gov/
- COPD (Chronic Obstructive Pulmonary Disease) - http://www.nlm.nih.gov/medlineplus/copdchronicobstructivepulmonarydisease.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
- Lungs and Breathing - http://www.nlm.nih.gov/medlineplus/lungsandbreathing.html
The primary NIH organization for research on Alpha-1 Antitrypsin Deficiency is the National Heart, Lung, and Blood Institute - http://www.nhlbi.nih.gov/