What is an alpha-1 antitrypsin (AAT) test?
This test measures the amount of alpha-1 antitrypsin (AAT) in the blood. AAT is a protein that is made in the liver. It helps protect your lungs from damage and diseases, such as emphysema and chronic obstructive pulmonary disease (COPD).
AAT is made by certain genes in your body. Genes are the basic units of heredity passed down from your parents. They carry information that determines your unique traits, such as height and eye colour. Everyone inherits two copies of the gene that makes AAT, one from their father and one from their mother. If there is a mutation (change) in one or both copies of this gene, your body will make less AAT or AAT that doesn’t work as well as it should.
- If you have two mutated copies of the gene, it means you have a condition called AAT deficiency. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45.
- If you have one mutated AAT gene, you may have lower than normal amounts of AAT, but mild or no symptoms of the disease. People with one mutated gene are carriers of AAT deficiency. This means you don’t have the condition, but you could pass the mutated gene on to your children.
An AAT test can help show if you have the genetic mutation that puts you at risk for disease.
Other names: A1AT, AAT, alpha-1-antiprotease deficiency, α1-antitrypsin
What is it used for?
An AAT test is most often used to help diagnose AAT deficiency in people who develop lung disease at an early age (45 years or younger) and do not have other risk factors such as smoking.
The test may also be used to diagnose a rare form of liver disease in infants.
Why do I need an AAT test?
You may need an AAT test if you are under the age of 45, are not a smoker, and have symptoms of lung disease, including:
- Wheezing
- Shortness of breath
- Chronic cough
- Faster than normal heartbeat when you stand up
- Vision problems
- Asthma that doesn’t respond well to treatment
You may also get this test if you have a family history of AAT deficiency.
AAT deficiency in babies often affects the liver. So your baby may need an AAT test if his or her health care provider finds signs of liver disease. These include:
- Jaundice, a yellowing of the skin and eyes that lasts for more than a week or two
- An enlarged spleen
- Frequent itching
What happens during an AAT test?
A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
Will I need to do anything to prepare for the test?
You don’t need any special preparations for an AAT test.
Are there any risks to the test?
There is a very little physical risk to a blood test. You may have slight pain or bruise at the spot where the needle was put in, but most symptoms go away quickly.
What do the results mean?
If your results show a lower than normal amount of AAT, it probably means you have one or two mutated AAT genes. The lower the level, the more likely it is you have two mutated genes and AAT deficiency.
If you are diagnosed with AAT deficiency, you can take steps to reduce your risk of disease. These include:
- Not smoking. If you are a smoker, quit smoking. If you don’t smoke, don’t start. Smoking is the leading risk factor for life-threatening lung disease in people with AAT deficiency.
- Following a healthy diet
- Getting regular exercise
- Seeing your health care provider regularly
- Taking medicines as prescribed by your provider
If you have questions about your results, talk to your health care provider.
Is there anything else I need to know about an AAT test?
Before agreeing to be tested, it may help to speak with a genetic counsellor. A genetic counsellor is a specially trained professional in genetics and genetic testing. A counsellor can help you understand the risks and benefits of testing. If you are tested, a counsellor can help you understand the results and provide information on the condition, including your risk of passing the disease on to your children.
References
- Lab Tests Online [Internet]. Washington D.C.: American Association for Clinical Chemistry; c2001–2019. Alpha-1 Antitrypsin; [updated 2019 Jun 7; cited 2019 Oct 1]; [about 2 screens]. Available from: https://labtestsonline.org/tests/alpha-1-antitrypsin
- Lab Tests Online [Internet]. Washington D.C.: American Association for Clinical Chemistry; c2001–2019. Jaundice; [updated 2018 Feb 2; cited 2019 Oct 1]; [about 3 screens]. Available from: https://labtestsonline.org/conditions/jaundice
- Merck Manual Consumer Version [Internet]. Kenilworth (NJ): Merck & Co. Inc.; c2019. Alpha-1 Antitrypsin Deficiency; [updated 2018 Nov; cited 2019 Oct 1]; [about 2 screens]. Available from: https://www.merckmanuals.com/home/lung-and-airway-disorders/chronic-obstructive-pulmonary-disease-copd/alpha-1-antitrypsin-deficiency?query=alpha-1%20antitrypsin
- National Heart, Lung, and Blood Institute [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; Alpha-1 Antitrypsin Deficiency; [cited 2019 Oct 1]; [about 2 screens]. Available from: https://www.nhlbi.nih.gov/health-topics/alpha-1-antitrypsin-deficiency
- National Heart, Lung, and Blood Institute [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; Blood Tests; [cited 2019 Oct 1]; [about 3 screens]. Available from: https://www.nhlbi.nih.gov/health-topics/blood-tests
- NIH U.S. National Library of Medicine: Genetics Home Reference [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; What is a gene?; 2019 Oct 1 [cited 2019 Oct 1]; [about 3 screens]. Available from: https://ghr.nlm.nih.gov/primer/basics/gene
- UF Health: University of Florida Health [Internet]. Gainesville (FL): University of Florida Health; c2019. Alpha-1 antitrypsin blood test: Overview; [updated 2019 Oct 1; cited 2019 Oct 1]; [about 2 screens]. Available from: https://ufhealth.org/alpha-1-antitrypsin-blood-test
- University of Rochester Medical Center [Internet]. Rochester (NY): University of Rochester Medical Center; c2019. Health Encyclopedia: Alpha-1 Antitrypsin; [cited 2019 Oct 1]; [about 2 screens]. Available from: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=alpha_1_antitrypsin
- UW Health [Internet]. Madison (WI): University of Wisconsin Hospitals and Clinics Authority; c2019. Alpha-1 Antitrypsin Genetic Testing: What is Alpha-1 Antitrypsin Deficiency?; [updated 2018 Sep 5; cited 2019 Oct 1]; [about 2 screens]. Available from: https://www.uwhealth.org/health/topic/special/alpha-1-antitrypsin-deficiency-genetic-testing/uf6753.html
- UW Health [Internet]. Madison (WI): University of Wisconsin Hospitals and Clinics Authority; c2019. Alpha-1 Antitrypsin Genetic Testing: What is Genetic Counseling?; [updated 2018 Sep 5; cited 2019 Oct 1]; [about 7 screens]. Available from: https://www.uwhealth.org/health/topic/special/alpha-1-antitrypsin-deficiency-genetic-testing/uf6753.html#tv8548
- UW Health [Internet]. Madison (WI): University of Wisconsin Hospitals and Clinics Authority; c2019. Alpha-1 Antitrypsin Genetic Testing: Why Would I Not Be Tested?; [updated 2018 Sep 5; cited 2019 Oct 1]; [about 6 screens]. Available from: https://www.uwhealth.org/health/topic/special/alpha-1-antitrypsin-deficiency-genetic-testing/uf6753.html#uf6790
