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
Doctor:
Thank you.
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 exception, not the rule.
If you have any more questions on this, please feel free to ask
Patient: ok Dr I have a second question. I like the way you answered the first one very direct informative and to the point. My question is in regards to colon cancer. I have a family history mother and grandmother both in there late 60’s early 70’s. Mother had two polyps one was cancer in situ removed a small section of the colon grandmother had cancer very high up in colon and passed away. I have had very frequent loose bowel movements. my last colonscopy was 4 years ago which was good NO polyps, hemmroid and undifined colitis.very mild. what are the chances that I developed colon cancer in 4 years. I am male 40. I do have some blood on the toilet paper but I do have a protruding hemmroid which when I touch can see some blood. been like that since last exam comes and goes. i READ THAT CANCER TAKES YEARS TO DEVELOPE IT THAT TRUE . getting a scope end of month.
Doctor:
Sorry this took so long, there was a computer issue.
As to your question. Let’s start with the question about developing cancer. First, there is only one situation where a colon cancer will develop rapidly. This is a genetic disorder where a person will actually have hundreds if not thousands of polyps. The chances of one of those polyps being a cancer is 100%.
Colon cancer develops from polyps. Polyps are slow growing, taking many years to grow. If that polyp turns cancerous, it is only then that the cancer may grow more rapidly (a year). Now, if you have a family history such as a parent or a sibling that has colon cancer, then your first colonoscopy should be done 10 years before the onset of their cancer. For example, if your sister had colon cancer at age 40, then your colonoscopy should be at age 30. If they had at at age 30 then yours should be at 20. You get the idea. Since your colonoscopy was clean and you had it 20 years before the onset of the cancer in your family, it would not necessarily pick it up. However, in another 4-5 years, it will. 90% of colorectal cancers happen over the age of 50. Hemorrhoids don’t have any impact on colon cancer. The chances you developed colon cancer in 4 years is extremely remote. Polyps grow slow and as we just said cancer comes from polyps. If a colonoscopy did not pick up a polyp because it was too small to see, then the chances of cancer are almost nil. I think you are right to be vigilant. The recommendation is every 10 years if it was clean. However you can always request then to be done more often. Just know that the risks of perforation are real.
Here is some more information, in a form of a video.
Link