Alpha 1-antitrypsin deficiency laboratory tests
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Overview
Laboratory Findings
The diagnosis of alpha-1 AT deficiency should be suspected in any patient who:
- Develops emphysema younger than 45 years old, if they are a non/minimal smoker, or if they have primarily basilar disease OR
- Has a history of panniculitis or
- 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) and a PA (posteroanterior) and lateral chest x-ray are recommended.