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Genetic and Rare Diseases Information Center (GARD)

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Alpha 1-antitrypsin deficiency

Other Names for this Disease
  • A1AT deficiency
  • AAT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
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Tests & Diagnosis

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How is alpha-1-antitrypsin deficiency diagnosed?

Alpha1-antitrypsin deficiency is suspected in people with evidence of lung disease (i.e., emphysema, asthma, persistent airflow obstruction, and/or chronic bronchitis) and/or evidence of liver disease at any age. The diagnosis of Alpha1-antitrypsin deficiency relies on the demonstration of low plasma concentration of alpha1-antitrypsin and observation of a deficient variant of the protein AAT by protease inhibitor (PI) typing OR detection by molecular genetic testing of mutations in both copies of SERPINA1, the gene encoding AAT.[1]

For a comprehensive review of Alpha1-antitrypsin deficiency including its diagnosis, you can visit GeneReviews at the following link. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

You can also learn more about Alpha1-antitrypsin testing on the Lab Tests Online Web site. A public resource developed by the American Association for Clinical Chemistry.

Last updated: 7/26/2011

  1. Schlade-Bartusiak K, Cox DW. Alpha1-Antitrypsin Deficiency . GeneReviews. February 2008; Accessed 7/26/2011.