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"Resources" on this report.
Copyright 1985, 1988, 1990, 1991, 1993, 1996, 1997, 1998, 1999, 2001, 2002, 2005, 2008
NORD is very grateful to Jean Wall Bennett, MD, Professor of Medicine, Cleveland Clinic Lerner College of Medicine, for assistance in the preparation of this report.
Synonyms of Alpha-1-Antitrypsin Deficiency
- A1AD
- A1AT Deficiency
- AAT
- AAT Deficiency
- Alpha-1
- 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
Disorder Subdivisions
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.
Organizations related to Alpha-1-Antitrypsin Deficiency
- Alpha-1 Advocacy Alliance
PO Box 202
103 Rapidan Church Lane
Wolftown VA 22748
Phone #: 540-948-6777
800 #: 866-367-2122
e-mail: N/A
Home page: http://www.alpha1advocacy.org
- Alpha-1 Association
2937 SW 27th Avenue
Suite 106
Miami FL 33133
Phone #: 305-648-0088
800 #: 800-521-3025
e-mail: info@alpha1.org
Home page: http://www.alpha1.org
- Alpha-1 Foundation
2937 SW 27th Avenue
Suite 302
Miami FL 33133
Phone #: 305-567-9888
800 #: 877-228-7321
e-mail: info@alphaone.org
Home page: http://www.alphaone.org
- Alpha-1 Research Registry
c/o Medical University of South Carolina
96 Jonathan Lucas St., Suite 812-CSB, MSC 630
PO Box 250630
Charleston SC 29425-6300
Phone #: 843-792-0260
800 #: 877-886-2383
e-mail: alphaone@musc.edu
Home page: http://www.alphaoneregistry.org
- American Liver Foundation
75 Maiden Lane
Suite 603
New York NY 10038
Phone #: 212-668-1000
800 #: 800-465-4837
e-mail: info@liverfoundation.org
Home page: http://www.liverfoundation.org
- American Lung Association
61 Broadway, 6th Floor
New York NY 10006
Phone #: 212-315-8700
800 #: 800-586-4872
e-mail: N/A
Home page: http://www.lungusa.org
- COPD-ALERT
3210 N. Leisure World Blvd.
Ste. 614
Silver Spring MD 20906
Phone #: 301-598-6693
800 #: N/A
e-mail: vlady@copd-alert.com
Home page: http://www.copd-alert.com
- Children's Liver Alliance
None
None IN None
Phone #: N/A
800 #: --
e-mail: mail@liverkids.org.au
Home page: http://www.liverkids.org.au
- Children's Liver Disease Foundation
36 Great Charles Street
Birmingham Intl B3 3JY
Phone #: +44- (0-) 121 212 3839
800 #: --
e-mail: info@childliverdisease.org
Home page: http://www.childliverdisease.org
- Cholestatic Liver Disease Consortium (CLiC)
c/o Joan Hines, The Children's Hospital
13123 E. 16th Ave.
Suite B290
Aurora CO 80045
Phone #: 720-777-2598
800 #: N/A
e-mail: hines.joan@tchden.org
Home page: http://www.rarediseasesnetwork.org/clic
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K None 1220
Phone #: 45 -33 -14 00 10
800 #: N/A
e-mail: mail@sjaeldnediagnoser
Home page: http://www.raredisorders.dk
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