What Is Alpha1-Antitrypsin Deficiency?

Alpha1-antitrypsin deficiency (AL-fa / one / an-tee-TRIP-sin / de-FISH-an-see), or alpha-1, is a rarely diagnosed genetic disease often called "genetic COPD" because it can be passed down through families. If you have alpha-1, your body does not make enough alpha1 antitrypsin, a protein that protects your lungs from inflammation that can reduce lung function. Alpha-1 is the major known genetic risk factor for COPD.1,2

Work with your doctor regarding treatment and lifestyle changes that may help you better manage living with alpha-1.

How common is alpha-1?

If you have alpha-1, you are not alone.

  • Approximately 100,000 people in the United States have alpha-1, but more than 9 out of 10 don't know they have it3
  • Alpha-1 may be a contributing cause of up to 3% of all COPD cases in the United States3
  • Since alpha-1 is a genetic condition, if you are diagnosed with alpha-1, you should encourage your family members to get tested as well

What are the symptoms of alpha-1 and why haven't I been tested before?

One reason people are not tested for alpha-1 earlier is that the symptoms of alpha-1–induced lung disease are identical to those of other common lung diseases such as asthma, COPD (emphysema, chronic bronchitis), and bronchiectasis.1

Alpha-1 is often not diagnosed in patients with these diseases because the symptoms are similar:

  • Shortness of breath
  • Wheezing
  • Chronic cough
  • Phlegm production
  • Low tolerance for exercise

What does it mean to be an alpha-1 carrier?4

The Alpha1-antitrypsin protein is made from a pair of genes that each of us receives from our parents. Each parent provides one alpha-1 gene. Normal protein is made from the M gene. People who have two normal genes (known as MM) do not have alpha-1.

Some people have abnormal genes. Two common abnormalities of the M gene are S and Z. Individuals with two abnormal alpha-1 genes (such as SZ or ZZ) are considered to have severe Alpha1-antitrypsin deficiency. People with one normal and one abnormal alpha-1 gene (such as MZ) are called carriers. Carriers may not develop disease symptoms of alpha-1, but they still carry an abnormal alpha-1 gene and may pass that along to their children. If two carriers each pass along abnormal alpha-1 genes to their child, that child could have severe Alpha₁-antitrypsin deficiency and develop disease symptoms later in life.

MM=NORMAL

Does not have the disorder and does not carry any abnormal alpha-1 genes.

MZ=CARRIER

Carries and abnormal alpha-1 gene.

ZZ=SEVERE DEFICIENCY

Has two abnormal alpha-1 genes.

Family tree.

Why you should encourage your family to get screened for alpha-1

Since Alpha1-antitrypsin deficiency is a genetic condition, a family with one member diagnosed with alpha-1, or found to be a carrier, could have other members affected. If you are diagnosed with alpha-1, you should encourage your family members to get screened.

The American Thoracic Society guidelines, the World Health Organization guidelines, and the COPD Foundation guidelines have recommended which family members of people with alpha-1 should also be tested for alpha-15-7:

  • Biological brothers and sisters
  • Biological children, parents, or distant relatives 

Because alpha-1 is a genetic condition, only a blood test can help their healthcare professional determine if they have alpha-1, but first, they should be screened to see if that is necessary.

They can go to their healthcare professional’s office and ask to be screened or they can screen themselves at home and for free* with the FDA-cleared AlphaID™ At Home Genetic Health Risk Service and share their results with their doctor. To learn more, visit www.AlphaIDAtHome.com.

The AlphaID™ At Home Genetic Health Risk Service is at least 99% accurate and enables consumers, in the US and over the age of 18 years old, to confidentially learn their risk for alpha-1 for free. Results are only provided to the person who submitted their sample. The process is easy—they simply collect a small saliva sample using the AlphaID™ At Home Saliva Collection kit by swabbing the inside of their cheek from the comfort of their home and send it to a third-party lab. The postage and lab processing are included at no charge. An email will be sent alerting them that their report is ready to be viewed through their password protected account. Knowing their results can help them make decisions about the jobs they select and other lifestyle choices.

Order a free AlphaID At Home Kit

The receipt of this free testing service does not create any expectation or obligation on your part to purchase or use any product or service offered by any manufacturer.

Important Safety Information

PROLASTIN®-C LIQUID is an alpha1-proteinase inhibitor (human) (alpha1-PI) indicated for chronic augmentation and maintenance therapy in adults with clinical evidence of emphysema due to severe hereditary deficiency of alpha1-PI (Alpha1-antitrypsin deficiency).

 

Limitations of Use

  • The effect of augmentation therapy with any alpha1-PI, including PROLASTIN-C LIQUID, on pulmonary exacerbations and on the progression of emphysema in alpha1-PI deficiency has not been conclusively demonstrated in randomized, controlled clinical trials
  • Clinical data demonstrating the long-term effects of chronic augmentation or maintenance therapy with PROLASTIN-C LIQUID are not available
  • PROLASTIN-C LIQUID is not indicated as therapy for lung disease in patients in whom severe alpha1-PI deficiency has not been established

PROLASTIN-C LIQUID is contraindicated in immunoglobulin A (IgA)-deficient patients with antibodies against IgA or patients with a history of anaphylaxis or other severe systemic reaction to alpha1-PI products.


Hypersensitivity reactions, including anaphylaxis, may occur. Monitor vital signs and observe the patient carefully throughout the infusion. If hypersensitivity symptoms occur, promptly stop PROLASTIN-C LIQUID infusion and begin appropriate therapy.


Because PROLASTIN-C LIQUID is made from human plasma, it may carry a risk of transmitting infectious agents, eg, viruses, the variant Creutzfeldt-Jakob disease (vCJD) agent, and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent. This also applies to unknown or emerging viruses and other pathogens.


The most common adverse reactions during PROLASTIN-C LIQUID clinical trials in >5% of subjects were diarrhea and fatigue, each of which occurred in 2 subjects (6%).

 

Please see full Prescribing Information for PROLASTIN-C LIQUID.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit  http://www.fda.gov/medwatch, or call 1-800-FDA-1088.

References

  1. What is alpha-1? Alpha-1 Foundation website. https://www.alpha1.org/what-is-alpha1. Accessed August 2, 2022.
  2. 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 August 2, 2022.
  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. Alpha-1 Antitrypsin Deficiency Healthcare Provider's Guide. Alpha-1 Foundation. Version 3.1 September 2020.
  5. World Health Organization. α1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Org. 1997;75(5):397-415.
  6. 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.
  7. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. 8. Data on file, Grifols.
     

*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.