Alpha 1-antitrypsin deficiency laboratory tests

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Alpha 1-antitrypsin deficiency Microchapters

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Overview

Laboratory Findings

The diagnosis of alpha-1 AT deficiency should be suspected in any patient who:

  1. Develops emphysema younger than 45 years old, if they are a non/minimal smoker, or if they have primarily basilar disease OR
  2. Has a history of panniculitis or
  3. Has or has a family history of unexplained liver disease (especially cirrhosis or hepatoma).
  • In suspected individuals the initial step is to measure the serum alpha-1 AT concentration.
  • In general, phenotyping should be reserved for patients who have low or borderline low alpha-1 AT levels.
  • PFTs-pulmonary function tests (spirometry pre and post bronchodilators, lung volumes and diffusing capacity),
  • LFTs (liver function test)
  • ABG-arterial blood gases (usually)

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