Usually, alpha-1 antitrypsin deficiency (AATD) is diagnosed after the condition has caused lung or liver disease. Your doctor might suspect you have AATD if you have symptoms of serious lung disease without an obvious cause, like smoking.
In order to diagnose AAT deficiency, 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 alpha-1 antitrypsin deficiency is inherited
Your doctor may perform tests to diagnose alpha-1 antitrypsin deficiency, including:
- Blood test: this test involves taking a blood sample and checking the level of AATD in your blood. If the level is low, it's likely you have AATD.
- Genetic test: this test involves taking a sample of your blood or other tissue and examining your genes to see if you have faulty AATD 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.
Based on the results, your doctor will recommend a treatment option that is best for you.