Alpha-1-Antitrypsin

[Cabmic]

I am a 45 yr. old female diagnosed with emphysema 6 yrs. ago after a very severe bout of pnemonia (pneumonia). Up until then I smoked 1/2 pk a day for about 18 yrs. I quit when I had the pnemonia (pneumonia). I have lost several fmily members to copd (Grandfather on mother's side, my father and 4 of his sisters). I exercise 3-4x/week, eat healthy and drink only water. My emphysema seems to be worsening at an alarming rate. When I requested that my pulmonary doctor test for the Alpha-1-Antitrypsin deficiency, these are the results he sent me:

Your blood test showed: Alpha-1-Antitrypsin Phenotyping Phenotype MS 90% of normal individuals have the MM phenotype, with normal quantitative AAT levels. Classical AAT deficiency occurs in persons with ZZ homozygous phenotype. Many other phenotype patterns have been described, most of which have normal AAT levels. The last level for Alpha-1-Antitrypsin was in the normal range.

This was the exact wording in the letter I received. Needless to say, since I am not a medical professional, I have no idea what all this means. When I asked him to explain, all he said was that my levels were low, but still within the normal range, but that I do not have 2 normal genes, I do have one of the variants. When I asked him if I should be treated for the deficiency he just said that this might affect my children. Can someone please explain these test results to me? Thanks so much.

[National Jewish]

Alpha-1 antitrypsin deficiency is the name given to a small number of cases of emphysema where there is a hereditary basis.  This can occur in people who have never smoked.  It is the result of not having enough of a major protein, called alpha-1 antitrypsin, in the blood.  As you know this is determined by two blood tests.  One test measures the amount of alpha-1 antitrypsin and the other determines the phenotype or genetic pattern.  This problem could have implications for you, your siblings, and your children, who should also be tested.

The genes for alpha-1 antitrypsin deficiency or alpha-1 have been named with letters of the alphabet.  The normal gene is labeled "M" and the most common gene causing severe deficiency has been labeled "Z".  We each have two genes for most genetic traits, one inherited from our father and one from our mother.  A person with severe alpha-1 inherits a "Z" gene from each parent and is often identified as ZZ during testing for alpha-1.  Over the years a large number of abnormal genes for alpha-1 have been identified, in fact more than 100.  Of these, about a third have been shown to cause lower than normal levels of circulating alpha-1 antitrypsin in the blood.  The rest don't cause any problems as far as we know.  The "S" gene is one of the genes that is known to cause a deficiency, although not as severe as the "Z" gene. In fact, only people with a combination of one "S" gene and one "Z" gene (SZ) are known to have an increased risk of developing emphysema.  Individuals with two "S" genes (SS) and individuals with one "S" gene and one normal gene (MS) are not considered to be at increased risk of emphysema and are, in general, not candidates for specific alpha-1 therapy.  It is believed that there are likely to be many more genes than just the alpha-1 genes that put people at risk of developing lung disease like emphysema.  It may well be that a combination of mildly abnormal alpha-1 and these unidentified genes can put an individual at increased risk, but this is something under active study.  At present, since the current therapy is designed to bring a deficient individual’s alpha-1 antitrypsin level towards the normal range, individuals with an alpha-1 antitrypsin already in the normal range would not be expected to benefit from this therapy.  I hope this answer provides some clarification.  Please read our alpha-1 antitrypsin deficiency or inherited emphysema information at http://www.nationaljewish.org/disease-info/diseases/copd/about/alpha1-antitrypsin.aspx to learn more.

[Cabmic]

Just wondering why I have not received a reply - According to my doctor, I do not need to be treated for the Aplha-1-Antitrypsin deficiency unless I have 2 defective genes. I'm just asking if this is true....can anyone help me?