Alpha-1 Antitrypsin Deficiency

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Alpha-1 Antitrypsin Deficiency is not the name you expected.

Disorder Subdivisions

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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 and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis. A1AD is also more frequent among individuals with Wegener's granulomatosis, now called polyangiitis with granulomatosis. A deficiency of A1AT allows substances that break down proteins (so-called proteolytic enzymes) to attack various tissues of the body. The attack results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 antitrypsin is ordinarily released by specialized, granules within a type of white blood cells (called neutrophils or polymorphonuclear leukocytes) in response to infection or inflammation. Deficiency of alpha-1 antitrypsin results in unbalanced (i.e., relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs. Over years, this destruction leads to progressive emphysema and is accelerated by smoking, some occupational exposures, and likely by other genetic modifiers of this risk which remain incompletely understood.

Supporting Organizations

Alpha-1 Foundation

3300 Ponce de Leon Blvd.
Coral Gables, FL 33134
Tel: (305) 567-9888
Fax: (305) 567-1317
Tel: (877) 2-CURE-A1 or (877) 228-7321

Alpha-1 Research Registry

c/o Medical University of South Carolina
96 Jonathan Lucas St., Suite 812-CSB, MSC 630
Charleston, SC 29425-6300
Tel: (843)792-0260
Fax: (843)792-0297
Tel: (877)886-2383

American Liver Foundation

39 Broadway, Suite 2700
New York, NY 10006
Fax: (212)483-8179
Tel: (800)465-4837

American Lung Association

55 W. Wacker Drive
Suite 1150
Chicago, IL 60601
Tel: 1-800-548-8252


3210 N. Leisure World Blvd.
Ste. 614
Silver Spring, MD 20906
Tel: (301)598-6693
Fax: (301)598-6926

Childhood Liver Disease Research and Education Network

c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351

Children's Liver Disease Foundation

36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Tel: 1212123839
Fax: 1212124300

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

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: or
Website: and

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

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Last Updated:  1/27/2014
Copyright  2014 National Organization for Rare Disorders, Inc.