Alpha-1 antitrypsin deficiency is an inherited disease, which means it's passed down to you by your parents. It can lead to lung disease, especially if you smoke.
If you think there's a chance you have alpha-1, you should get tested. Though there's no cure yet, you can make smart moves to protect your lungs and get the right treatments.
Because most people with alpha-1 don’t know they have it, many experts recommend alpha-1 testing for everyone with COPD or emphysema. It’s also suggested if you have asthma that doesn’t get better with treatment.
What Are the Symptoms?
Most of the symptoms from alpha-1 are due to the effects in the lungs.
Symptoms of Alpha-1 include:
- Shortness of breath
- Frequent colds, flu, or bronchitis
- Unexplained weight loss
Though not common, some people develop liver symptoms, which include:
- Jaundice, which causes your skin and eyes to turn yellowish
- Swelling in your belly and legs
How You Get Alpha-1
People who develop the illness have two faulty genes, one passed from each parent.
It's possible to have just one broken gene, which makes you a carrier. You won't get alpha-1 yourself, but you pass the gene on to your children.
A test can show that you have both genes. It cannot say for certain what will happen to your health. If you inherit two faulty genes, you may develop emphysema in your 40s or 50s -- or you may never get symptoms of lung disease. If you aren’t tested, you may never even know you have alpha-1.
Blood Tests and Lung Checks
The best way to diagnose alpha-1 is a test that looks at your DNA (genetic information.) Your doctor will take a blood sample, or swab the inside of your cheek. Lab workers will check your sample for the faulty genes that cause alpha-1.
Another blood test measures how much of the alpha-1 protein is in your body.
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.
- Spirometry, which is 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 Alpha-1?
Though there's no cure for alpha-1, there are treatments to delay or prevent lung disease.
It's also important to know if you can pass the genes on to family members.
A healthy lifestyle -- including a balanced diet, regular exercise, and not smoking -- can help keep your lungs in the best possible shape. If you do develop lung disease, you can work with your doctor on a plan to help you manage symptoms and feel your best.
Talk with your doctor if you have concerns about how to protect your privacy if you get tested.