What is Alpha-1?

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

Why am I being tested for Alpha-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:

  • A history of breathing problems.
  • Abnormal breathing tests.
  • A history of liver problems.
  • Abnormal laboratory tests.
  • A history of cigarette smoking.
  • A relative who is known to have Alpha-1.
  • Unusual skin problems.

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.

What is this test?

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:

Immunoassay

The first test – called immunoassay – is a simple blood test that determines how much alpha1-antitrypsin protein is in your blood.

Phenotyping

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.

Genotyping

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.

What happens during the test?

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.

How do I find out the results?

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.

What are the possible results?

There are three possible results you could receive from your healthcare provider:

  • You do not have Alpha-1.
  • You have one abnormal gene for Alpha-1.
  • You have two abnormal genes for Alpha-1.

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.

What does it mean if I have two abnormal genes for Alpha-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 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.

What kinds of lifestyle changes will my healthcare provider suggest?

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

People with Alpha-1 should follow good health practices, including:

  • If smoking, stop
  • Participating in a pulmonary rehabilitation program if breathing is difficult
  • Adhering to a good nutrition and exercise program
  • Maintaining regular healthcare provider appointments and complying with prescribed medications and professional advice

To stay healthy, it is also best to:

  • Minimize exposure to people who are sick
  • Avoid all forms of tobacco smoke, including second-hand smoke from other smokers1
  • Minimize occupational and environmental pollutants, including dust and pollen, wood-burning stoves, fumes from household cleaning products, paints, and other toxic agents1
What does it mean if I have only one abnormal gene for Alpha-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.

What should I know about the laws governing genetic testing?

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:

  • Genetic information
  • The refusal to produce genetic information or submit to genetic testing
  • Having been genetically tested in the past
  • For the Alpha-1 community, GINA allows for early detection of this condition without fear of employment or insurance consequences.

 

*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.

 

References:

  1. American Thoracic Society/European Respiratory Society statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
  2. National Human Genome Research Institute. Genetic Information Nondiscrimination Act: 2007-2008. January 2009. http://www.genome.gov/10002328. Accessed April 9, 2012.