How Is Alpha-1 Antitrypsin Deficiency
Diagnosed?
Alpha-1 antitrypsin (AAT) deficiency is usually
diagnosed after you develop a lung or liver disease that's linked to AAT
deficiency.
Because of this, a number of different health care
professionals may be involved in the diagnosis of AAT deficiency. These include
primary care doctors, pulmonologists (lung specialists), and hepatologists
(liver specialists).
To check whether the disease you have may be related
to AAT deficiency, your doctor will:
- Ask about possible risk factors. A common sign of
AAT deficiency is when you have a lung or liver disease without any obvious
causes or risk factors. Another is if you have
emphysema at an unusually early age (45 years or
younger).
- Ask about your family's medical history. If you
have close family members who have AAT deficiency, you're more likely to have
the condition.
Diagnostic Tests
If your doctor thinks that you have AAT deficiency,
he or she may order tests to check for the condition. He or she also may order
tests to check for lung- or liver-related conditions.
A genetic test is the most certain way to check for
AAT deficiency. This test will show whether you have altered AAT genes.
A blood test also may be used. This test checks the
levels of AAT protein in your blood. If the AAT levels are a lot lower than
normal, it's likely that you have AAT deficiency.
Lung-Related Tests
If you have a lung disease related to AAT
deficiency, your doctor may recommend
pulmonary function tests and high-resolution computed
tomography (CT) scanning.
Pulmonary function tests show how well you're able
to blow air out of your lungs. They also show how much air gets into your lungs
when you breathe. These tests are used to check how severe your lung disease is
and how well treatment is working.
High-resolution CT scanning uses x rays
to create detailed pictures of sections of the body. CT scans show whether you
have emphysema and how severe it is. |