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Alpha-1 Antitrypsin Deficiency

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • 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. 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.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
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
USA
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
USA
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
USA
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
USA
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/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

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

COPD-ALERT
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:  5/12/2011
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