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Alpha-1 Antitrypsin Deficiency (A1ATD) Diagnosis

Usually, A1ATD is diagnosed after the condition has caused lung or liver disease. Your doctor might suspect you have A1ATD if you have symptoms of serious lung disease without an obvious cause, like smoking.

In order to diagnose A1ATD, your doctor will:

  • Ask you about the risk factors, including smoking and exposure to fumes, dust, or other toxic substances
  • Take your medical history to see if you have a history of lung or liver disease that do not have obvious causes or risk factors
  • Ask about your family’s medical history, because A1ATD is inherited

Your doctor may perform tests to diagnose A1ATD, including:

  • Blood test: this test involves taking a blood sample and checking the level of A1ATD in your blood.  If the level is low, it is likely you have A1ATD.                                
  • Genetic test: this test involves taking a sample of your blood or other tissue and examining your genes to see if you have faulty A1ATD genes.
  • Lung function tests: these tests determine how well your lungs are working by measuring how much air you can breathe in and out and how fast you can breathe out. They may also measure how well your lungs are delivering oxygen to your blood.
  • Computed tomography (CT) scan: this test involves taking a high resolution scan of your lungs in order to create detailed pictures of the lung tissue. These scans can show if you have emphysema or another lung disease.