Medical tests and diagnosis of A1AD

A1AD often remains undiagnosed. Lung symptoms may not show until people are in middle age and can be misdiagnosed as asthma.  If you begin to suffer from the symptoms listed, you can ask your doctor for a simple and inexpensive blood test to measure the level of AAT in your blood.  Low AAT levels will lead to testing the individual's AAT genetic make-up. Referral then to see a respiratory specialist is usual so that regular x-rays and lung function tests can monitor you and medications applied to help symptoms.

AAT Genetic testing is also recommended if you have a relative who has been diagnosed with A1AD or a family history of early emphysema or liver disease. Early warning for a young person can guide them to avoid smoking and to choose the right sort of work.

Some people with A1AD may not have obvious symptoms and can be leading healthy lives, especially if they avoid smoking.  However, they still risk passing an affected gene onto their children and can develop symptoms in later life.