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Alpha 1 Antitrypsin

Category:

Alpha-1 Antitrypsin

Description

 

Alpha-1 antitrypsin (AAT) is a protein produced in the liver and released into the blood.

 

This test is prescribed to search the origin of early onset emphysema and/or liver disorder. Also in order to the check risk of developing alpha-1 antitrypsin-related emphysema and/or liver disease in persons with close relatives affected by these problems.

 

AAT concentration is measured by means of analysis of a blood sample drawn from vein in the arm.

 

Purpose of the test

 

AAT helps to block certain proteins called enzymes, for example elastase. Elastase is produced by neutrophils.  It destroys proteins and its concentration is regulated by AAT.   In case of lack of AAT, elastase can cause damage lung tissue.  This problem is normally associated with a genetic disease, which causes risk of emphysema in early adulthood.

 

In case of abnormal AAT production, this protein accumulates in the liver and can damage it.

 

Different AAT tests are used to measure the amount and type of AAT present and determine the genetic problems which are related:

 

  • Alpha-1 Antitrypsin: Test that measures concentration of AAT
  • Alpha-1 Antitrypsin Phenotype: Test that determines the different variants of AAT
  • Alpha-1 Antitrypsin DNA testing: In order to identify which protease inhibitor gene mutations are present.

 

 

 

Reference range values

 


89 – 199 mg/dL

 

 

Abnormal findings

 

 

Low AAT levels usually mean:

·         risk of emphysema

·         risk of Liver disease

 

How low the levels are and how abnormal the AAT is determines the higher the risk is.

 

DNA Testing indicating presence of one or two abnormal copies of Pi gene means less AAT and abnormal AAT is produced.   Nevertheless people with the same gene copies may have different disease developed.

 

Other situations on which low AAT levels are obtained are:

·         neonatal respiratory distress syndrome

·         kidney disease

·         malnutrition

·         some cancers

 

High AAT levels can mean:

 

·         Important or chronic inflammatory conditions, infections and some kind of cancers

·         Effect of oral contraceptives, pregnancy, stress, and thyroid infections



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