Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
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Alpha 1-antitrypsin deficiency
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Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.[1] Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream.[2] Because of a problem with the  SERPINA1 gene, some people have little or no AAT.[1][2] Not having enough AAT may lead to emphysema or liver problems.[2] Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant.[2]

References
  1. Alpha 1-antitrypsin deficiency. Genetics Home Reference (GHR). 2007 Available at: http://www.ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency. Accessed June 25, 2009.
  2. Alpha 1-Antitrypsin Deficiency. MedlinePlus. 2009 Available at: http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html. Accessed June 25, 2009.

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 General | Management Guidelines
More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • Genetics Home Reference (GHR) contains a condition summary on Alpha 1-antitrypsin deficiency. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
    • The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative. Click on the link to view information on this topic.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alpha 1-antitrypsin deficiency. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha 1-antitrypsin deficiency. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
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    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Medical Products (Found 1 resource)
 Ask-an-Expert | Testing | Genetic Services
Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Ask-an-Expert

    • Alpha 1 Association Genetic Counseling Center. The Call Center offers information and resources to individuals, family members and medical professionals on the genetics of Alpha-1 and provides information on testing options. Contact 800-785-3177 to ask a genetic counselor questions about alpha 1 antitrypsin deficiency.
  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Genetic Services

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
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Support Groups (Found 10 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 1 resource)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Alpha 1-antitrypsin deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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