Frequently Asked Questions about Alpha-1

Whether you have only recently heard of alpha1-antitrypsin deficiency, or have already learned your risk for alpha-1, you likely have questions. You can find answers to some of the most common questions about alpha-1 below. There are also links to other helpful alpha-1 resources for additional information and support.

Alpha-1

What is alpha-1?

Alpha1-antitrypsin deficiency, often called alpha-1, is a genetic condition that can lead to serious lung disease. It is passed down from parents to their children through their genes.1-2

What causes alpha-1?

Alpha-1 is caused by genetic variants (differences) in the SERPINA1 gene. This gene contains instructions for making the alpha-1 protein. Alpha-1 protein is made in the liver, and it helps protect lungs from damage. Certain genetic variants in SERPINA1 result in too little alpha-1 protein getting to the lungs. As a result, lung damage may occur.1-2

How serious and common is alpha-1?

Alpha-1 can lead to serious lung disease. Approximately 100,000 people in the United States have alpha-1, but fewer than 10% of them have been diagnosed.3-4 This is why it is critical to get tested by your healthcare professional and start the conversation.

People with alpha-1 may develop COPD (a serious lung disease). Lung-related symptoms may include shortness of breath, wheezing, chronic cough, and recurring lung infections.5-6

If you’ve already been diagnosed with COPD, it’s very important to find out if you have alpha-1. In fact, guidelines from the COPD Foundation and World Health Organization (WHO) recommend that everyone diagnosed with COPD be tested for alpha-1.7-8
 

How is alpha-1 diagnosed?

The only way to know if you have alpha-1 is to get tested by your healthcare professional. Your doctor may use a combination of several different tests. A genetic disorder like alpha-1 can only be confirmed through genetic testing.9 The first step is to find out your risk for alpha-1 with the free and easy AlphaID™ At Home Genetic Health Risk Service.* 

Can alpha-1 be treated?

While there is no cure for alpha-1, it is important to know that it can be treated.1,8,10-11 FDA-approved treatments may be available. Talk to your doctor about treatment options and managing alpha-1. 

What is augmentation therapy?

Augmentation therapy is often prescribed for people with alpha-1 who have emphysema, a type of chronic obstructive pulmonary disease (COPD). This kind of therapy “augments” or supplements the missing alpha1-antitrypsin protein using alpha-1 protein taken from donor blood plasma. People treated with augmentation therapy typically receive weekly IV infusions. Ask your doctor about treatment options and if augmentation therapy could be right for you.

Alpha-1 Testing

Why should people with COPD get tested for alpha-1?

People with alpha₁-antitrypsin deficiency don’t produce enough of an important protein that helps protect the lungs. People with alpha-1 may suffer from serious respiratory problems like emphysema and COPD. And since alpha-1 symptoms can be similar to those of other common lung diseases, it often goes undiagnosed. The COPD Foundation and other leading health organizations recommend that all COPD patients get tested for alpha-1.7-8 Confirming a diagnosis and considering treatment is essential—FDA-approved treatment options may be available. You can start by finding out your risk for alpha-1 with the free and easy AlphaID At Home Genetic Health Risk Service.*

If I have already learned my risk for alpha-1 through the AlphaID At Home Genetic Health Risk Service Report, what is the next step with my doctor?

The AlphaID At Home Genetic Health Risk Service Report identifies your risk level for alpha-1. It is not a diagnosis of alpha-1. Only your healthcare professional can diagnose alpha-1. An actual diagnosis provides the information for you and your healthcare professional to make decisions, address changes in your health, and develop an optimal treatment plan. Your doctor can order a free, physicians-only test kit to confirm an alpha-1 diagnosis at AlphaID.com. 

Where can I find a healthcare professional with experience in alpha-1 testing?

Your current healthcare professional may have experience with alpha-1 testing. If not, or you’re not sure, use our Find a Doctor tool to search using your ZIP code. This tool allows you to find a healthcare professional who has experience testing, including those at Alpha-1 Foundation Clinical Resource Centers (CRCs) that specialize in alpha-1. 

What should I bring to my alpha-1 testing appointment with my healthcare professional?

It’s important to remember to bring the following items with you to your alpha-1 testing appointment:

  • Your AlphaID At Home Genetic Health Risk Service Report (if you have one)
  • Any notes or questions you may have for your healthcare professional

Place these items somewhere they will be easy to remember to take with you.
 

Where else can I go for information about alpha-1?

The following organizations and advocacy groups can provide resources, education, and support for alpha-1: 

Alpha-1 Foundation 

The Alpha-1 Foundation is the only national organization dedicated to developing a cure for alpha-1 and improving the quality of life for patients and their families. Acting as a patient advocate, the foundation helps the alpha-1 community better connect to one another—strengthening the support and care networks they need.

www.alpha1.org | (877) 228-7321, Ext: 321 

 

AlphaNet ®

AlphaNet offers free comprehensive disease management services to individuals with alpha1-antitrypsin deficiency. AlphaNet Coordinators are alpha-1 patients themselves, trained to provide customized care to the alpha-1 community.

www.alphanet.org | (800) 577-2638

 

COPD Foundation

The COPD Foundation is a not-for-profit organization established to speed innovations that will make treatments more effective and affordable, undertake initiatives that result in expanded services for COPD patients, and improve the lives of patients with COPD.

www.copdfoundation.org

 

These websites are provided as resources only and do not constitute an endorsement by Grifols of any particular content. Grifols does not review or control the content of non-Grifols websites.

 

*The AlphaID™ At Home Genetic Health Risk Service, including the kit, is provided for free and may not be billed to patients or their insurers. There is no obligation to purchase or use any product or service offered by any manufacturer.

 

References

  1. American Thoracic Society; European Respiratory Society. 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 Oct 1;168(7):818-900.
  2. de Serres F, Blanco I. Role of alpha-1 antitrypsin in human health and disease. J Intern Med. 2014 Oct;276(4):311-35.
  3. 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.
  4. Chorostowska-Wynimko J. Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency. Eur Respir Rev. 2015 Mar;24(135):40-5.
  5. Stoller JK, Aboussouan LS. Alpha1-antitrypsin deficiency. Lancet. 2005 Jun 25-Jul 1;365(9478):2225-36.
  6. McElvaney NG, Stoller JK, Buist AS, Prakash UB, Brantly ML, Schluchter MD, Crystal RD. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1- Antitrypsin Deficiency Registry Study Group. Chest 1997;111;394-403.
  7. Identifying the Alpha-1 Patient, COPD Foundation website, https://www.copdfoundation.org/Praxis/Community/Blog/Article/994/Identifying-the-Alpha-1-Patient.aspx Accessed 16 July 2025
  8. World Health Organization. α1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Org. 1997;75(5):397-415.
  9. Data on file, Alpha-1 Genetics Laboratory.
  10. Sandhaus RA, Turino G, Brantly ML, Campos M, Cross CE, Goodman K, Hogarth DK, Knight SL, Stocks JM, Stoller JK, Strange C, Teckman J. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016 Jun 6;3(3):668-682.
  11. Global strategy for the diagnosis, management, and prevention of Chronic Obstructive Pulmonary Disease. GOLD COPD 2021 report.