Alpha-1 Antitrypsin Deficiency

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Alpha-1 Antitrypsin Deficiency is not the name you expected.

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.

Supporting Organizations

Alpha-1 Foundation

3300 Ponce de Leon Blvd.
Coral Gables, FL 33134
USA
Tel: (305) 567-9888
Fax: (305) 567-1317
Tel: (877) 2-CURE-A1 or (877) 228-7321
Email: info@alpha-1foundation.org
Website: http://www.alpha1.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
Website: http://www.alphaoneregistry.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/
Website: http://www.liverfoundation.org

American Lung Association

55 W. Wacker Drive
Suite 1150
Chicago, IL 60601
USA
Tel: 1-800-548-8252
Email: info@lung.org
Website: http://www.lungusa.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
Website: http://www.copd-alert.com

Childhood Liver Disease Research and Education Network

c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351
Email: joan.hines@childrenscolorado.org
Website: http://www.childrennetwork.org

Children's Liver Disease Foundation

36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Tel: 1212123839
Fax: 1212124300
Email: info@childliverdisease.org
Website: http://www.childliverdisease.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
Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  1/27/2014
Copyright  2014 National Organization for Rare Disorders, Inc.