Good Afternoon Dr. Mahler:
I hope you can help me with some information about Alpha-1. My sister recently died from complications of Alpha-1, this was diagnosed through an autopsy. We have no idea how long she was suffering with the disease, but was admitted to the hospital and passed 5 days later from cirrhosis, spontaneous peritonitis, and sepsis. Such a shock. I had my blood test and found that I am a carrier and unlikely? to have problems. I do have asthma and nodules in my lung so I am very concerned.
Would you suggest I have further tests to assure my lung issues
Would you suggest I have further tests to assure my lung issues are not related to Alpha 1? Thank you in advance for your assistance.
Judy from Kalamazoo, MI
I am sorry to hear about your sister.
It is important to remember that alpha-1 antitrypsin deficiency (abbreviated Alpha-1) is a liver disease that can affect the lungs, especially if someone smokes. The Alpha-1 protein is made in the liver and is called a protease inhibitor – this means that it protects the lung from damage. The condition is most common among Europeans and North Americans of European descent.
Cirrhosis affects about 30-40% of those with Alpha-1 over the age of 50 years. Unless your mother had another reason to have cirrhosis (like hepatitis or excess alcohol intake), her cirrhosis was likely due to Alpha-1 disease. Your health care provider should be able to tell you this from the autopsy results.
You stated that you are a carrier. You should ask you health care provider for the exact results. This includes the alleles (two letters) and the level of Alpha-1 in the blood. Being a carrier means that you probably have a Z or S allele (inherited from one parent); the other allele is probably M, which is normal. You should share this information with any siblings and children, who can then tell their health care provider.
You are correct that it is very unlikely that you will have any liver or lung problem as a carrier for Alpha-1. Certainly, it is quite important that you do not smoke cigarettes or inhale irritants in the air.
The figure shows possible conditions associated with Alpha-1 deficiency.
In response to your question about additional tests:
Has your health care provider told you what is the cause of the lung nodules? There are many causes for lung nodules, and the key issue is to determine that they are benign (not cancer). Usually, follow-up CT scans of the chest are done to make sure that the nodules are stable in size over a 2 year period. If so, then it is assumed that the nodules are benign.
Asthma is diagnosed by a medical history AND breathing tests. If you have not had pulmonary function tests (breathing tests), you should request these. The information can help in making the correct diagnosis and in determining how your lungs are working. As the above figure indicates, sometimes Alpha-1 can be misdiagnosed as asthma.
Finally, the Alpha-1 Foundation is a great resource for more information.
Donald A. Mahler, M.D.