Charlie Strange, MD

My lab test came back with an Alpha-1 protein level only.  What does this tell me about my genes?  Do I need another test?

Alpha-1 Antitrypsin is a protein that protects the elastin in the lungs from getting broken down by neutrophil elastase.  The protein level test measures the amount of Alpha-1 Antitrypsin in your blood.  A low level could increase the risk for emphysema, especially if you smoke cigarettes.  The protein level test is a reliable screening test that is inexpensive and has a quick turn-around time.  However, there is overlap between the ranges of blood levels for normal, carrier, and severely deficient persons.  The protein level test does not tell us what your genotype is, for example whether you are MM, MZ, ZZ or other genotypes.  Therefore, if your Alpha-1 protein level is low, it is recommended that you follow-up with genetic testing to determine your genotype.  If your protein level is normal, genetic testing may not be warranted, although some carriers can have normal levels.

I just got my test results indicating that I am a PiZZ, what should I do now?

First, it is recommended that you have a second blood test to confirm your genotype.  This information is important for both you and your family members.  Once your genetic information is known, other family members may want to consider genetic testing as well.  If you are experiencing any symptoms, it is important to determine if your symptoms are due to Alpha-1 deficiency or another health concern.  You can find out more information about Alpha-1 by reading supporting information published by the Alpha-1 Association, Alpha-1 Foundation, and AlphaNet or by visiting their websites on the internet.  If you are currently asymptomatic, it is still useful to have your physician perform liver protein level tests and lung function tests.  You may also want to consider getting vaccinations against influenza, pneumonia, and hepatitis.  Some individuals also find it helpful to visit a Clinical Resource Center in their area or to call the Alpha-1 Association Genetic Counseling Center.

If I am diagnosed with Alpha-1 liver disease, does it mean that I am going to develop lung disease?

In the Alpha-1 Research Registry, approximately two-thirds of Alphas diagnosed with liver disease self report lung disease as well.  Cigarette smoking and environmental dust are the major reasons why Alphas with liver disease may have lung disease as well.  Therefore, if you do not smoke, or if you are smoking and quit, you can reduce your risk of developing lung disease.

Why should I consider genetic testing if Alpha-1 runs in my spouse’s family?

Alpha-1 Antitrypsin Deficiency is one of the most common metabolic disorders.  Therefore, it is possible that you could be a carrier even though it is in your spouse’s family history.  Testing you will also help to determine if testing your children would be recommended.  If your spouse has genetic testing and is neither deficient nor a carrier, there is not a reason to test you.  However, if your spouse is a carrier or has a severe deficiency of Alpha-1 you may want to consider testing to determine if there is a risk that your children may inherit Alpha-1.

Why should I consider genetic testing if there is no known cure?

There are many benefits to undergoing the genetic testing despite the absence of a current cure.  In terms of your health, there are treatments that can slow the progression of the disease.  If you have testing that indicates you have the deficiency, you may monitor for the development of liver disease more thoroughly and pay attention to subtle changes that your physician may otherwise not be concerned about if you did not test positive for Alpha-1.  In addition, it is recommended that Alphas live and work in clean air environments and avoid cigarette smoking.  Beyond the benefits the results of a genetic test may have for your personal health, it is important information for your family members.  It may mean that other family members are at risk and may want to consider having genetic testing as well.  It may be important for your children when making lifestyle and occupation choices.  If your genetic test results indicate you are an Alpha you can help other Alphas in the community by considering being a participant in research studies, by attending support group meetings and educational conferences, and being a resource to others with the disease.