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Alpha 1 Anti-Trypsin Deficiency

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by Howson A

(AAT Deficiency; Alpha-1 Antiprotease Deficiency)

 

Symptoms

In addition, if the liver is affected in adults, the following symptoms may be present:
  • Itching
  • Jaundice (yellowing skin and/or whites of eyes)
  • Vomiting
  • Swollen abdomen
  • Abdominal pain
Symptoms in children can occur in the first weeks of life or later in childhood. If your child has any of these symptoms, do not assume it is due to AAT deficiency. These symptoms may be caused by other conditions. Tell the doctor if your child has any of these:
  • Infants:
  • Older children:
    • Fatigue
    • Poor appetite
    • Swollen abdomen
 

Diagnosis

Your doctor will ask about your symptoms and medical history and do a physical exam. Your doctor may refer you to a doctor who specializes in the lungs or liver, depending on the symptoms you are having.
Tests may include the following:
Liver Biopsy
Placement of Liver Biopsy Needle
Copyright © Nucleus Medical Media, Inc.
 

RESOURCES

Alpha-1 Association
http://www.alpha1.org/

American Lung Foundation
http://www.lungusa.org/

 

CANADIAN RESOURCES

Canadian Liver Foundation
http://www.liver.ca/

Canadian Thoracic Society
http://www.lung.ca/cts-sct

 

References


DynaMed Editors. Alpha-1 anti-trypsin deficiency (AAT). EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated June 2, 2010. Accessed June 7, 2010.


Hericks AJ. An overview of alpha-1 antitrypsin deficiency. Mo Med . 2007; 104(3): 255-259.


The Merck Manuals Online Library. Alpha-1 antitrypsin deficiency. The Merck Manuals Online Library website. Available at: http://www.merck.com/mmpe/sec05/ch049/ch049b.html?qt=alpha%201%20antitrypsin%20deficiency&alt=sh . Accessed June 7, 2010.


National Jewish Health. Alpha-1 antitrypsin deficiency: inherited liver disease. National Jewish Health website. Available at: http://www.nationaljewish.org/healthinfo/conditions/alpha-1/inherited-liver-disease/index.aspx . Accessed June 8, 2010.


Wood D. Emphysema. EBSCO Health Library website. Available at: http://www.ebscohost.com/healthLibrary/ . Updated May 24, 2010. Accessed June 7, 2010.

 

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