Alpha 1-antitrypsin deficiency laboratory tests

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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