Genetic COPD
What is Genetic COPD?
Alpha-1 antitrypsin deficiency (Alpha-1), also known as genetic COPD, is a condition that is passed down in families. It can cause damage to the lungs and/or liver and happens when the liver makes abnormal alpha-1 protein. These proteins help protect the lungs from inflammation. Without enough of this protein, the lungs are more sensitive to damage from harmful substances. This can lead to lung problems like emphysema, even in people who have never smoked.
How Common is Genetic COPD?
Alpha-1 is one of the most common serious inherited conditions caused by a single gene. It can affect people all over the world of every nationality. 90% of people with genetic COPD remain undiagnosed.
How is Alpha-1 Inherited?
We all have two alpha-1 (AAT) genes. One from our mother and one from our father. The type of gene that you inherit determines your risk for alpha-1-related health problems.
If you have two normal genes (MM), there is no increased risk of alpha-1-related disease.
You should have healthy protein levels to protect your lungs and liver.
If you have one normal and one abnormal gene (MZ), you may have a small drop in alpha-1 protein levels.
You may have some symptoms, and you can pass down the abnormal gene to your children.
If you have two abnormal genes (ZZ), you can have lower protein levels and have a higher risk of alpha-1-related disease.
You can pass down the abnormal gene to your children.
Who Should Be Tested?
ALL people with COPD or other chronic lung diseases should be tested for alpha-1 once in their life.
Ask your doctor about an alpha-1 test if:
- You have liver problems and doctors don’t know the cause.
- You have trouble breathing but have never smoked.
- You have asthma that does not get better with treatment.
- Someone in your family has been diagnosed with alpha-1.
Why Should I Get Tested?
When someone has Alpha-1, additional treatments may be available for them and their families.
Family members can take a test to learn their risk as well. Getting diagnosed early can lead to quicker treatment for them.
How Do I Get Tested?
Testing for alpha-1 is simple, and there are several different options:
- Ask your health care provider to order a blood test.
- Order your own alpha-1 screening test through free home testing options like GeneticCOPDtest.
- Contact the Alpha-1 Foundation for other free testing options.
All AlphaID™ At Home Saliva Collection Kits are provided by Grifols. The receipt of this free testing service does not create any expectation or obligation to purchase or use any product or service offered by any manufacturer.
Test Today. Protect Tomorrow.
To Learn More About Alpha-1 Treatments
To learn more about treatment options for alpha-1 visit the Alpha-1 Foundation. They offer trusted information, patient support programs, and resources to help you manage your health.
Genetic COPD Patient Resources:
Videos
Podcasts
The COPD Foundation Podcast is a health series focused on living well with lung conditions such as COPD, Bronchiectasis, NTM, and Alpha-1. In our dedicated HCP episodes you will hear from experts on topics related to, diagnosis and management, innovation and much more.
Portions of the educational materials on this page are sponsored by Grifols.