How is alpha-1 antitrypsin deficiency (Alpha-1) diagnosed?

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How is alpha-1 antitrypsin deficiency (Alpha-1) diagnosed?

Doctors often first diagnose people with Alpha-1 as having asthma, because the disorders share many symptoms, especially shortness of breath. If you don’t respond to asthma treatment, your doctor may order several tests to diagnose Alpha-1. Alternatively, you might ask your doctor whether Alpha-1 could be causing you symptoms and request being tested. These can include:

  • Blood test: A doctor takes a sample of your blood to measure your levels of AAT and your Alpha-1 type (i.e., which, if any, abnormal genes for Alpha-1 you have) as well as other substances.
  • Imaging tests: Tests such as X-rays and CT scans help doctors confirm identifying signs of Alpha-1 in the lungs. These tests can show the location of any damage and how severe it is.
  • Genetic tests: Your doctor may study a blood sample to identify abnormal genes associated with Alpha-1.

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