Learn more about alpha1-antitrypsin deficiency

Find out why it's important for people with COPD, like you, to know if they have alpha1-antitrypsin deficiency

For many people, COPD can be caused by smoking, second-hand smoke, or environmental factors, like working with chemicals and other harmful substances that are breathed in on a regular basis.1 But for some people, COPD is actually caused by a rare genetic condition called alpha1-antitrypsin deficiency (AL-fa / one / an-tee-TRIP-sin / de-FISH-an-see), or alpha-1. This condition is also known as "genetic COPD," which is why it's important to be tested with a genetic test. The AlphaKit™ is a FREE* genetic test that your healthcare professional can use to determine if you have alpha-1.2

Download the Alpha-1 Fact Sheet

What is alpha1-antitrypsin deficiency?

Alpha-1 is sometimes also referred to as "genetic COPD" and is caused by a deficiency in a specific protein called alpha1-antitrypsin. This protective protein plays a critical role in safeguarding the lungs. Having low levels of the alpha-1 protein can leave your lungs vulnerable to serious damage. Only your healthcare professional can test for alpha-1.3

Alpha-1 is a rare genetic condition that is passed down from your parents through your genes. This condition, which can go undetected for years, may result in serious lung disease.2

Who should be tested for alpha1-antitrypsin deficiency and why?

Guidelines from both the World Health Organization (WHO) and American Thoracic Society (ATS) recommend testing all people with COPD for alpha-1, regardless of their age or smoking history. If you've been diagnosed with COPD, you should get tested for alpha-1. If you are diagnosed with alpha-1, treatment options may exist in addition to your COPD medications.4,5

Why would I not have been tested for alpha1-antitrypsin deficiency before?

Alpha-1 is underdiagnosed because it is often overshadowed by patients' smoking history. In fact, more than 90% of the estimated 100,000 people in the United States who have alpha-1 don't know they have it. This is because people with genetic COPD experience the same symptoms as people with COPD, such as1,6:

  • Shortness of breath
  • Wheezing
  • Recurring chest colds
  • Low exercise tolerance
  • Year-round allergies

The only way you will know for sure if you have genetic COPD due to alpha-1 is to get tested.

 

How can I get tested for alpha1-antitrypsin deficiency?

Since alpha-1 is a genetic condition, only a blood test can accurately determine if you have it. Free genetic testing and processing of the results is available with the AlphaKit. Other testing options include a blood test through a commercial lab (eg, LabCorp, Quest). Check with your insurance company to understand the costs and coverage associated with going to a commercial lab.

Order your FREE AlphaKit test today to find out if you have genetic COPD due to alpha-1.

How is the AlphaKit test performed?

The AlphaKit test is a free, quick, and easy fingerstick that takes less than 10 minutes to conduct in your healthcare professional's office. Testing for alpha-1 is needed only once in your lifetime. All the items your healthcare professional needs to perform the test will be included in your AlphaKit. Your test will be processed at GeneAidyx Laboratory LLC, a world-renowned genetics testing laboratory that specializes in alpha-1 testing, in just 2 business daysafter receiving your test. Your results are kept completely confidential between you and your healthcare professional.

COPD=chronic obstructive pulmonary disease.


*The AlphaKit test kits are provided compliments of Grifols and may not be billed to patients or their health insurers.

Average processing time for results is 2 business days from the time the test kit is received by the laboratory.


References:

  1. What is COPD? COPD Foundation website. https://www.COPDfoundation.org/What-is-COPD/Understanding-COPD/What-is-COPD.aspx. Accessed March 28, 2017.
  2. What is alpha-1? Alpha-1 Foundation website. https://www.alpha1.org/what-is-alpha1. Accessed March 28, 2017.
  3. What causes alpha-1 antitrypsin deficiency? National Heart, Lung, and Blood Institute website. https://www.nhlbi.nih.gov/health/health-topics/topics/aat/causes. Updated October 11, 2011. Accessed March 28, 2017.
  4. World Health Organization. α1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415.
  5. 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(7):818-900.
  6. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186.