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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
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Tests & Diagnosis

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How is alpha-1 antitrypsin deficiency diagnosed?

Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age.

Confirming the diagnosis involves a blood test showing a low serum concentration of the alpha-1 antitrypsin (AAT) protein, and either:
  • detecting a functionally deficient AAT protein variant by isoelectric focusing (a method for detecting mutations); or
  • detecting SERPINA1 gene mutations on both copies of the gene with molecular genetic testing. (This confirms the diagnosis when the above-mentioned tests are not performed or their results are not in agreement.)[1]
Specialists involved in the diagnosis may include primary care doctors, pulmonologists (lung specialists), and/or hepatologists (liver specialists).[2]
Last updated: 4/7/2016

References
  1. James K Stoller, Felicitas L Lacbawan, and Loutfi S Aboussouan. Alpha-1 Antitrypsin Deficiency. GeneReviews. May 1, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1519/.
  2. What Is Alpha-1 Antitrypsin Deficiency?. NHLBI. October, 2011; http://www.nhlbi.nih.gov/health/health-topics/topics/aat.


Other Names for this Disease
  • AAT deficiency
  • A1AT deficiency
  • AATD
  • 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.