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    Alpha-1 Antitrypsin Deficiency

    Alpha-1 Antitrypsin Deficiency

    National Organization for Rare Disorders, Inc.

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    It is possible that the main title of the report Alpha-1 Antitrypsin Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


    • A1AD
    • AATD
    • genetic emphysema

    Disorder Subdivisions

    • None

    General Discussion

    Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis. A1AD is also more frequent among individuals with Wegener's granulomatosis, now called polyangiitis with granulomatosis. A deficiency of A1AT allows substances that break down proteins (so-called proteolytic enzymes) to attack various tissues of the body. The attack results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 antitrypsin is ordinarily released by specialized, granules within a type of white blood cells (called neutrophils or polymorphonuclear leukocytes) in response to infection or inflammation. Deficiency of alpha-1 antitrypsin results in unbalanced (i.e., relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs. Over years, this destruction leads to progressive emphysema and is accelerated by smoking, some occupational exposures, and likely by other genetic modifiers of this risk which remain incompletely understood.


    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Internet: http://www.marchofdimes.com

    Alpha-1 Association
    2937 SW 27 Avenue Suite 106
    Alpha-1 Genetic Counselor: 1-800-785-3177
    Miami, FL 33133
    Tel: (305)648-0088
    Fax: (305)648-0089
    Tel: (800)521-3025
    Email: info@alpha1.org
    Internet: http://www.alpha1.org

    American Liver Foundation
    39 Broadway, Suite 2700
    New York, NY 10006
    Fax: (212)483-8179
    Tel: (800)465-4837
    Email: http://www.liverfoundation.org/contact/
    Internet: http://www.liverfoundation.org

    American Lung Association
    1301 Pennsylvania Ave NW
    Suite 800
    Washington, DC 20004
    Tel: (202)785-3355
    Fax: (202)452-1805
    Tel: (800)586-4872
    Email: info@lungusa.org
    Internet: http://www.lungusa.org

    Children's Liver Disease Foundation
    36 Great Charles Street
    Birmingham, B3 3JY
    United Kingdom
    Tel: 01212123839
    Fax: 01212124300
    Email: info@childliverdisease.org
    Internet: http://www.childliverdisease.org

    Alpha-1 Foundation
    2937 SW 27th Avenue Suite 302
    Miami, FL 33133
    Tel: (305)567-9888
    Fax: (305)567-1317
    Tel: (877)228-7321
    Email: info@alphaone.org
    Internet: http://www.alphaone.org

    Alpha-1 Research Registry
    c/o Medical University of South Carolina
    96 Jonathan Lucas St., Suite 812-CSB, MSC 630
    Charleston, SC 29425-6300
    Tel: (843)792-0260
    Fax: (843)792-0297
    Tel: (877)886-2383
    Email: alphaone@musc.edu
    Internet: http://www.alphaoneregistry.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Alpha-1 Advocacy Alliance
    PO Box 202
    Wolftown, VA 22748
    Tel: (540)948-6777
    Fax: (540)948-6763
    Tel: (866)367-2122
    Email: webmaster@alpha1advocacy.org
    Internet: http://www.alpha1advocacy.org

    3210 N. Leisure World Blvd.
    Ste. 614
    Silver Spring, MD 20906
    Tel: (301)598-6693
    Fax: (301)598-6926
    Email: vlady@copd-alert.com
    Internet: http://www.copd-alert.com

    Childhood Liver Disease Research and Education Network
    c/o Joan M. Hines, Research Administrator
    Children's Hospital Colorado
    13123 E 16th Ave. B290
    Aurora, CO 80045
    Tel: (720)777-2598
    Fax: (720)777-7351
    Email: joan.hines@childrenscolorado.org
    Internet: http://www.childrennetwork.org

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated:  1/27/2014
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