Alpha-1-Antitrypsin Deficiency

National Organization for Rare Disorders, Inc.

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 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)997-4488
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: (212)668-1000
Fax: (212)483-8179
Tel: (800)465-4837
Email: info@liverfoundation.org
Internet: http://www.liverfoundation.org

American Lung Association
61 Broadway, 6th Floor
New York, NY 10006
USA
Tel: (212)315-8700
Fax: (212)315-8870
Tel: (800)586-4872
Internet: http://www.lungusa.org

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, Intl B3 3JY
United Kingdom
Tel: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
Email: info@childliverdisease.org
Internet: http://www.childliverdisease.org

Alpha-1 Foundation
2937 SW 27th Avenue
Suite 302
Miami, FL 33133
USA
Tel: (305)567-9888
Fax: (305)567-1317
Tel: (877)228-7321
Email: info@alphaone.org
Internet: http://www.alphaone.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: 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
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

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
USA
Tel: (843)792-0260
Fax: (843)792-0297
Tel: (877)886-2383
Email: alphaone@musc.edu
Internet: http://www.alphaoneregistry.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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.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

COPD-ALERT
3210 N. Leisure World Blvd.
Ste. 614
Silver Spring, MD 20906
Tel: (301)598-6693
Fax: (301)598-6926
Email: vlady@copd-alert.com
Internet: 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
Email: hines.joan@tchden.org
Internet: http://www.rarediseasesnetwork.org/clic

For a Complete Report

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

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