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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alpha 1-antitrypsin deficiency


Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
  • Alpha-1-antitrypsin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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; C-ANCA positive vasculitis (i.e. granulomatosis with polyangiitis); and necrotizing panniculitis. The diagnosis 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.
http://www.ncbi.nlm.nih.gov/books/NBK1519/#alpha1-a.Diagnosis

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.
https://labtestsonline.org/understanding/analytes/alpha1-antitrypsin/tab/test

Last updated: 9/3/2015

References
  1. Stoller JK, Lacbawan FL, Aboussouan LS. Alpha-1 Antitrypsin Deficiency. GeneReviews. May 1, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1519/. Accessed 9/3/2015.


Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
  • Alpha-1-antitrypsin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.