Alpha-1-Antitrypsin Deficiency

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

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 joints. 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.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Alpha-1 Association
2937 SW 27th Avenue
Suite 106
Miami, FL 33133
Tel: (305)648-0088
Fax: (305)648-0089
Tel: (800)521-3025
Email: info@alpha1.org
Internet: http://www.alpha1.org

Children's Liver Alliance
IN
Email: mail@liverkids.org.au
Internet: http://www.liverkids.org.au

American Liver Foundation
75 Maiden Lane
Suite 603
New York, NY 10038
USA
Tel: 2126681000
Fax: 2124838179
Tel: 8004654837
Email: info@liverfoundation.org
Internet: http://www.liverfoundation.org

American Lung Association
61 Broadway, 6th Floor
New York, NY 10006
USA
Tel: 2123158700
Fax: 2123158870
Tel: 8005864872
Internet: 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
Email: info@childliverdisease.org
Internet: http://www.childliverdisease.org

Alpha-1 Foundation
2937 SW 27th Avenue
Suite 302
Miami, FL 33133
USA
Tel: 3055679888
Fax: 3055671317
Tel: 8772287321
Email: lrodriguez@alphaone.org
Internet: http://www.alphaone.org

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
Email: mail@sjaeldnediagnoser
Internet: 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: 8437920260
Fax: 8437920260
Tel: 8778662383
Email: alphaone@musc.edu
Internet: 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
Tel: (866)367-2122
Internet: http://www.alpha1advocacy.org

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: 7/23/2007
Copyright 1985, 1988, 1990, 1991, 1993, 1996, 1997, 1998, 1999, 2001, 2002, 2005, 2007 National Organization for Rare Disorders, Inc.

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