Alpha-1 Antitrypsin Deficiency - Diagnosis - Diagnosis

Your doctor will ask about your risk factors. This includes your lifestyle habits and environment, such as smoking or regularly breathing in dust. Your doctor will ask if you have relatives who have AAT deficiency or a lung or liver disease and whether you have any signs or symptoms of lung disease. Your doctor will also do a physical exam including listening to your lungs.

Your doctor may recommend tests to confirm a diagnosis of AAT deficiency. He or she also may recommend tests to check for lung- or liver-related conditions.

• A blood test can check the level of AAT protein in your blood. If the level is lower than normal, it is likely that you have AAT deficiency.
• A genetics test is the most certain way to check for AAT deficiency and should be done to confirm the results of the blood test and find the mutation in the AAT gene. A genetic counselor can help you understand what to expect from a genetic test and what your results mean.

If you have a lung disease related to AAT deficiency, your doctor may recommend pulmonary (lung) function tests and imaging tests such as a chest CT scan.

Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. CT scans use X-rays to create detailed pictures of parts of the body.

These tests show how well your lungs are working and whether you have COPD or other lung diseases.