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Jim's Transplant Journey
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What is Alpha 1?
(Or, all you never knew you needed to know about Alpha 1 )
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a hereditary condition that is passed on from parents to their children through genes. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults.
Alpha 1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver.
The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke. The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate.
This leads to a build up of abnormal AAT in the liver that can cause liver disease.
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Current research indicates there are at least 100,000 people in the United States who have Alpha 1.
Many are undiagnosed.
Alpha 1 - in a Nutshell
Alpha 1:
Is a genetic disorder that leads to low or undetectable levels of the protein AAT (alpha 1 ant-trypsin)
May cause severe lung disease in adults
May cause liver damage that gets worse over time in adults, children, and infants
Often goes undetected for years
Can be treated, but cannot be cured without a liver transplant
Is easy to find with a simple blood test
What are Some Symptoms
of Alpha 1?
Symptoms related to the lungs:
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Shortness of breath
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Wheezing
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Chronic cough and sputum (phlegm) production (chronic bronchitis)
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Recurring chest colds or pneumonia
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Low tolerance for exercise
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Non-responsive asthma or year-round allergies
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Bronchiectasis
Symptoms related to the liver:
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Eyes & skin turning yellow (jaundice)
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Swelling of the abdomen
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Vomitting blood or passing blood in the stool
Early diagnosis of Alpha-1 is very important because quitting smoking (if the Alpha smokes) and early treatment are both essential to help slow the progression of Alpha-1 lung disease.
Alpha-1 is often first diagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). COPD includes emphysema and chronic bronchitis. Alpha-1 is the most common genetic risk factor for COPD. About 3 percent of all people diagnosed with COPD may have undetected Alpha-1.
The World Health Organization (WHO), American Thoracic Society (ATS), and the European Respiratory Society (ERS) recommend that everyone with COPD, bronchiectasis, or asthma that isn’t controlled with usual medications, be tested for Alpha-1.
I think I should be tested. Now what?
So, you think you or a loved one may have Alpha 1? Luckily, testing is easy peasy. However, Alpha-1 Antitrypsin Deficiency can’t be diagnosed by symptoms or by a medical examination alone; you need to get a blood test to know for sure.
There are 3 ways to get tested:
1.
Talk With Your Doctor:
Contact your doctor and discuss if testing for Alpha 1 is appropriate for you. If you agree to be tested, your doctor will write a prescription for the test.
Testing for Alpha 1 is simple, quick and highly accurate. Testing can be conducted on a blood sample (blood draw or finger stick test).
Consult with your health insurance provider to determine if your plan covers the cost of this test.
Participate in an Alpha 1 Research Study:
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Many people at risk for Alpha-1 delay being tested due to concerns about privacy of test results. The Alpha-1 Foundation supports a confidential opportunity to be tested for Alpha-1 through the Alpha-1 Coded Testing (ACT) Study. This research study is conducted at the Medical University of South Carolina (MUSC) and examines people’s thoughts and feelings about the risks and benefits associated with learning genetic information.
Testing through the ACT Study is free and confidential.​
You’ll be directed to an application for a free, confidential test kit for Alpha-1 provided by the Alpha-1 Coded Testing (ACT) Study – an Alpha-1 Foundation-supported program run by the Medical University of South Carolina.
2.
3.
Get Free, Confidential Testing Without No Strings Attached:
The University of Florida also does free and confidential testing. This is how I was diagnosed. You can get a test kit (and your confidential results will be sent directly back to your doctor) by clicking the email link below:
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