Alpha-1 Antitrypsin Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Alpha-1 Antitrypsin Deficiency is not the name you expected.
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.
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- Email: firstname.lastname@example.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
- Tel: (843)792-0260
- Fax: (843)792-0297
- Tel: (877)886-2383
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- Website: http://www.alphaoneregistry.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/
- Website: http://www.liverfoundation.org
American Lung Association
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- Suite 1150
- Chicago, IL 60601
- Tel: 1-800-548-8252
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- Website: http://www.lungusa.org
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
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- Website: http://www.childrennetwork.org
Children's Liver Disease Foundation
- 36 Great Charles Street
- Birmingham, B3 3JY
- United Kingdom
- Tel: 1212123839
- Fax: 1212124300
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- 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
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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.
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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
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