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Alpha-1-Antitrypsin Deficiency
Important
It is possible that the main title of the report Alpha-1-Antitrypsin Deficiencyis not the name you expected.
Synonyms
- A1AT Deficiency
- AAT
- AAT Deficiency
- Antitrypsin Deficiency
- Cholestasis, Neonatal
- Familial Chronic Obstructive Lung Disease
- Familial Emphysema
- Hereditary Emphysema
- Homozygous Alpha-1-Antitrypsin Deficiency
- PI
- Pi Phenotype ZZ, Z- and --
- Protease Inhibitor Deficiency
- Serum Protease Inhibitor Deficiency
- A1AD
- Alpha-1
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 but most commonly appears as emphysema, less commonly as liver disease, or more rarely, as a skin condition called panniculitis. A deficiency of A1AT allows substances that break down protein (proteolytic enzymes) to attack various tissues of the body. This results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 Antitrypsin is ordinarily released by specialized, granular white blood cells (neutrophils) in response to infection or inflammation. A deficiency of Alpha-1 Antitrypsin results in unbalanced (relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs. This destruction over many years leads to emphysema and is accelerated by smoking and some occupational exposures.
Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com
Alpha-1 Association
2937 SW 27th Avenue
Suite 106
Miami
FL
33133
Tel: (305)648-0088
Fax: (305)648-0089
800: (800)521-3025
info@alpha1.org
http://www.alpha1.org
Children's Liver Alliance
IN
mail@liverkids.org.au
http://www.liverkids.org.au
American Liver Foundation
75 Maiden Lane
Suite 603
New York
NY
10038
USA
Tel: (212)668-1000
Fax: (212)483-8179
800: (800)465-4837
info@liverfoundation.org
http://www.liverfoundation.org
American Lung Association
61 Broadway, 6th Floor
New York
NY
10006
USA
Tel: (212)315-8700
Fax: (212)315-8870
800: (800)586-4872
http://www.lungusa.org
Children's Liver Disease Foundation
36 Great Charles Street Queensway
Birmingham
Intl
B3 3JY
United Kingdom
Tel: 0121-212-3839
Fax: 0121-212-4300
info@childliverdisease.org
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
800: (877)228-7321
lrodriguez@alphaone.org
http://www.alphaone.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K
1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
mail@sjaeldnediagnoser
http://www.raredisorders.dk
Alpha-1 Research Registry
c/o Medical University of South Carolina
96 Jonathan Lucus St., Suite 812-CSB
PO Box 250630
Charleston
SC
29425
USA
Tel: (843)792-0260
Fax: (843)792-0260
800: (877)866-2383
alphaone@musc.edu
http://www.alphaoneregistry.org
Alpha-1 Advocacy Alliance
PO Box 202
103 Rapidan Church Lane
Wolftown
VA
22748
Tel: (540)948-6777
Fax: (540)948-6763
800: (866)367-2122
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
vlady@copd-alert.com
http://www.copd-alert.com
Cholestatic Liver Disease Consortium (CLiC)
c/o Joan Hines, The Children's Hospital
13123 E. 16th Ave.
Suite B290
Aurora
CO
80045
Tel: (720)777-2598
Fax: (720)777-7325
hines.joan@tchden.org
http://www.rarediseasesnetwork.org/clic
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
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: 11/13/2008
Copyright 1985, 1988, 1990, 1991, 1993, 1996, 1997, 1998, 1999, 2001, 2002, 2005, 2008 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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