Emphysema is a form of chronic (long-term) lung disease, usually caused by smoking. Because of lung damage, people with emphysema have difficulty blowing air out.
The major symptom of emphysema is shortness of breath. In most people, symptoms of emphysema are slowly progressive. Emphysema symptoms also include cough and wheezing.
If you have COPD, your doctor may check to see if you have AAT deficiency.
Symptoms of AAT deficiency include:
Shortness of breath
Frequent respiratory infections like colds, flu, or bronchitis
Unexplained weight loss
Since AAT deficiency runs in families, you may want to be tested if you have a relative with it.
Two Kinds of AAT Deficiency
People who develop the illness have two faulty genes, one passed from each parent. Genes are part of your DNA.
It's possible to have just one faulty gene, which makes you a carrier. You won't get AAT deficiency yourself, but you can pass it to your children.
If you inherit two faulty genes, you can develop emphysema in your 40s or 50s -- or you may never get symptoms of lung disease. You may never even know you have AAT deficiency. So although a test may show that you have both genes, it cannot say for certain what will happen to your health.
Blood Tests and Lung Checks
The best way to diagnose AAT deficiency is with a test that looks at your DNA. Your doctor will take a blood sample or swab the inside of your cheek. Lab workers will check the sample for the faulty genes that cause AAT deficiency.
Another blood test measures how much of the AAT protein is present in your body. If the level is much lower than normal, that's a sign of AAT deficiency.
Your doctor may also suggest tests to look for lung disease. These may include:
A CT scan. This type of X-ray can spot emphysema.
A lung test to measure how much air you breathe in and out in a short time.
A blood gas test to measure how much oxygen is in your blood.
Why Get Tested for AAT Deficiency?
You may worry that testing positive could cause you to lose your job or health insurance. Talk with your doctor about your concerns and how to protect your privacy.
Though there's no cure for AAT deficiency, there are many things you can do to delay or prevent lung disease.
A healthy lifestyle – including a balanced diet, regular exercise, and not smoking – can help keep your lungs healthy. If you do develop lung disease, you can work with your doctor on a plan to help you manage symptoms and feel your best.