Alpha-1 Antitrypsin Deficiency (Alpha-1)
What is Alpha-1?
Alpha-1 is a genetic condition that can cause serious damage to your lungs or liver. It happens when you don’t have enough of a protein in your blood called alpha-1 antitrypsin (AAT), which is made in your liver.
AAT protects your lungs from smoke and other irritants. If you don’t have enough AAT in your blood, it can expose your lung tissue and other tissues to damage and increase your risk of developing COPD (chronic obstructive pulmonary disease).
The symptoms of Alpha-1 deficiency are similar to COPD, like shortness of breath, excessive cough, wheezing, and chest pain.
In This Article:
What Causes Alpha-1?
Alpha-1 is an inherited condition. It happens when one or both parents pass down a mutated form of the gene that is responsible for the production of the AAT protein.
Diagnosing Alpha-1
All people living with COPD are recommended to be tested for Alpha-1, according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) Guidelines. This is especially true for people who have a family history of the disease.
Your provider may order testing which can look at the amount of AAT in your blood as well as genetic markers. You may also be given a spirometry test. A spirometry test will tell you whether you have decreased lung function; decreased lung function could be a sign of COPD, which may be an indicator of Alpha-1. Finally, a chest x-ray or CT scan can look for damage to your lungs.1
Getting a diagnosis and access to therapies early, before you start to experience symptoms, usually makes Alpha-1 easier to manage.
Treating Alpha-1
There is no cure for Alpha-1, but staying healthy can reduce your chances of severe lung damage and disease. This includes quitting smoking and staying away from pollutants and irritants, staying up-to-date on your flu and other vaccinations, reducing alcohol consumption, eating healthy, and getting regular exercise.
Your healthcare provider may also prescribe medication, like inhaled medications or antibiotics, as well as oxygen therapy to keep your symptoms under control and reduce flare-ups.
Immunotherapy is also often helpful in treating Alpha-1. If you are not smoking and your lung function is rapidly getting worse, you may be eligible for AAT replacement therapy to increase the level of alpha-1 antitrypsin protein in your blood. It is worth noting that AAT replacement therapy does not guarantee long-term improvements in your lung health.1
Other people with Alpha-1 may be eligible for lung volume reduction surgery (LVRS) or lung transplant:
How Alpha-1 Affects COPD
Alpha-1 can raise your risk of developing COPD and other lung diseases, especially at a younger age than usual.
What You Can Do Today
- Talk to your provider about getting tested for Alpha-1.
- Exercise and enroll in pulmonary rehabilitation as instructed by your provider.
- Take your COPD medications and oxygen therapy as prescribed.
- Talk to your provider and Wellinks coach about quitting smoking.
- Speak to your coach to see if there is an opportunity for you to have free testing.