Alpha-1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency
Synonyms
Disorder Subdivisions
General Discussion
Resources
For a Complete Report

Content provided by National Organization for Rare Disorders

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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Last updated:	July 23, 2007

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