Patient: I dont know if my question is beyond the expertise of some of the Dr on this board. If not I apologize. I was told yesterday that I am a carrier of the Alpha 1 tris gene. My phenotype is pi mz. I had the test due to elevated liver functions without any cause. numerous MRI ultrasounds and dozens of whacky blood tests. My Dr who is a pulmonary specialist and gp sent me to a liver specialist in mt sinai hospital nyc. Where I was tested. My gp Dr states that being a carrier is of no real risk to me, just that I should not smoke. He said that my body does produce enough AAT My range is 88 mg ref 82 to 169. I read that being a carrier can increase my chances of getting lung disease. I had the flu last week and still have a cough for about two weeks .My Dr says it can take sometime and the cough has nothing to due with my results. The liver specialist said in the report that he has seen in some cases increased fibosis in setting like mine. would the Mri and ultrsound showed this. My alt 93
Your gp is correct, as long as you don’t smoke your chances of developing COPD is not increased. Dr Seersholm wrote a 2004 article that addressed this specific topic. His research showed that people with pimz did not have an increase incidence of lung disease as long as they did not smoke. The reason is because a pimz still has, at a minimum 60% AAT. This is enough to stave of lung disease in someone with A1AT def. The cough, is a response that can last for weeks to even a month or longer. The reason is not the lungs (in this case) but the bronchi. The cough is often the very last thing to leave or get better. This is seen in almost all cases of any respiratory issue. Since your numbers are good I would not worry that all of a sudden you developed a lung disease. As for the liver, the MRI or ultrasound would have shown fibrosis of the liver. Your clotting factors would be out of whack. Your protein would be low. It doesn’t appear that this is the case. I would have to agree with your gp on the lung issue and would say that your hepatologist (liver doc) may have seen some cases of worsening, but I guarantee you this was the ..Continue reading..