Alpha1–antitrypsin deficiency (Alpha-1) is a hereditary condition caused by reduced levels of alpha1-antitrypsin protein in the blood and lungs. This naturally occurring protein, which is made mostly in the liver, helps protect lung tissue from chemical reactions released by white blood cells. Individuals with Alpha-1 have an increased risk of developing emphysema, liver disease, or panniculitis over their lifetime.1
Your healthcare provider could have had any of a large number of reasons for deciding to test you for Alpha-1. A partial list is that you might have:
This test will help you by either giving you an accurate diagnosis of Alpha-1 so you can better manage your health, or by ruling out Alpha-1 altogether.
This test is a simple, convenient fingerstick test. Alpha-1 is tested by measuring the alpha1-antitrypsin levels in your blood. Using the AlphaTest® Kit is a simple, effective way for your healthcare provider to collect a blood sample and test you for Alpha-1.
The AlphaTest® Kit procedure includes one or more of the following processes:
The first test – called immunoassay – is a simple blood test that determines how much alpha1-antitrypsin protein is in your blood.
If the amount of alpha1-antitrypsin in your blood when measured by the immunoassay is low, phenotyping is done. This identifies what type of alpha1-antitrypsin protein you have in your blood.
The genotype test uses your DNA to conclusively identify any specific rare genetic abnormalities that may be present.
The AlphaTest® Kit is provided to you with compliments of Baxter. As this testing is complimentary, Medicare, Medicaid, or other governmental or private insurance plans do not reimburse or compensate for this Baxter-supported testing.
Using the provided lancet, your healthcare provider will make a small prick in the skin at the top side of your finger, and then have you apply the blood from your finger to the special blood collection paper, filling the circles marked on the paper.
Once the blood collection paper has dried, your healthcare provider will send this sample in a protective envelope to Alpha1Center – a special lab that runs comprehensive tests for Alpha-1.
Alpha1Center will send a letter with the test results to your healthcare provider's office within 2 weeks. Once your healthcare provider's office receives the letter, the staff will follow their protocol for informing you of your results. Ask your healthcare provider's office how you will be notified.
There are three possible results you could receive from your healthcare provider:
Your healthcare provider will make a clinical judgment to indicate which of these possibilities are shown by your test results.
If you have one or two genes for Alpha-1, you should speak with your healthcare provider to review the test results and determine the best way to manage your health.
Your healthcare provider needs to interpret these test results for you. Some types of abnormal genes are worse than others. If you have inherited two severely abnormal genes, you have a severe form of Alpha-1. If you do have severe Alpha-1, breathing tests and blood tests may help to understand its effect on your health. YOU MUST NOT SMOKE! You also must be very careful to follow your healthcare provider’s instructions about other lifestyle modifications, vaccinations, medications, and other types of treatment. Your healthcare provider may also prescribe a once-a-week alpha1-antitrypsin augmentation. If you have problems with your breathing, interventions recommended by your doctor may help to improve your sensation of breathing difficulty, help to improve your tolerance for exercise, and help to preserve your lung health. Some, but not all, people with severe Alpha-1 also develop liver problems. Since this is an inherited condition, you may pass the abnormal gene on to your children. Other relatives may also be affected, and should be tested.
Even if you do not have symptoms of Alpha-1 now, you could have symptoms in the future – however, taking steps in managing your health may delay the onset of symptoms.1
Your healthcare provider needs to interpret these test results for you. Some types of abnormal genes are worse than others. If you have inherited the most common type of severely abnormal gene, you have a milder form of Alpha-1 than would have been produced by two abnormal genes. It is unlikely to affect your lung health if you do not have a smoking history. Breathing tests and blood tests may help to understand its effect on your health. YOU MUST NOT SMOKE! Rarely, one abnormal Alpha-1 gene may cause liver problems. Since this is an inherited condition, you may pass the abnormal gene on to your children. Other relatives may also be affected, and should be tested.
Genetic testing can lead to early detection and allow for early treatment of a host of hereditary conditions, but some patients have been cautious about how health insurance companies or future employers might use that information. The Genetic Information Nondiscrimination Act (GINA)* has helped to reduce those concerns. GINA prohibits health insurance companies and employers from discriminating against you based on2:
*The GINA bill was passed by the US Senate on April 24, 2008, and the US House of Representatives on May 1, 2008. The bill was signed into law by President George W. Bush on May 21, 2008. The health insurance components took effect November 21, 2009, and the employment components took effect November 21, 2009. The law does not cover life insurance, disability insurance, and long-term care insurance.