I promise I am not going to turn this into The Hemochromatosis Blog but blogs tend to follow what's happening and hemochromatosis is what's happening right now to my best friend Chey.
It's happening because it's a progressive and incurable genetic condition. And it's also happening because new stuff keeps cropping up. Like today, I found two new things that generic iron overload can trigger (these are 'new' as in I never knew about them before). The first is arrhythmia, irregular heartbeat. If you've ever experienced arrhythmia, as in atrial fibrilation, you know it can be quite unsettling.
Well today, Chey was experiencing arrhythmia. So, I look it up on Google and what do I find: "arrhythmias are the most common cause of sudden death in hereditary hemochromatosis patients," according to this set of slides on Increasing Physician Awareness of Hereditary Hemochromatosis. (BTW, these slides by Dr. Kristen J. Schwall, from the Department of Internal Medicine at St. Barnabas Medical Center should be required reading for all doctors.)
According to the Journal of Interventional Cardiac Electrophysiology, hemochromatosis has been associated with atrial tachyarrhythmias and congestive heart failure as a consequence of dilated or restrictive cardiomyopathy. Oh that's just great!
Then as a side effect of Googling, I find a study published by the National Cancer Institute in 2003. This suggests that the two genes, C282Y and H63D, which are linked to hereditary hemochromatosis, may lead to an increased risk of developing colon cancer.
Doctors found that subjects with at least one copy of either of the genes were 40% more likely to have colon cancer than those without. (No word on what it means if you have two copies of C282Y, which Chey does, but I doubt that helps things.) They also found that the risk of cancer increased with age and greater iron intake. The researchers believe that at least 15% of the population carries at least one copy of the mutated gene. They think the study could lead to improved colon cancer screening protocols. Wouldn't that be ironic? Hemochromatosis screening gets funded as a colon cancer prevention strategy.
So here's the deal. We are waiting for a doctor's appointment on Thursday at which Chey's iron overload treatment should finally begin (if not, the hills around Cooperstown will probably ring with screams of "Why not?")
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