“HHC is a Multi-System Disorder.”
My experience with hereditary hemochromatosis began the month before my 33rd birthday. In August 2009, despite feeling generally healthy I was declined extended disability insurance as a result of some blood analysis the insurance company completed. Essentially, my liver enzymes were elevated.
My liver enzymes were elevated? It was a surprise for sure, so a trip to my general physician ensued where he spent about six weeks sending me for numerous blood tests trying to rule out any major infectious diseases. In the end, his biggest concern was hepatitis A or B, which didn’t make sense to me, but was the most logical explanation about my liver enzymes. He also lined me up for an abdominal ultrasound which I was able to get for mid-October and produced more questions as it showed an enlarged liver and spleen and enlarged lymph nodes in my abdominal cavity.
I soon had a referral to a gastroenterologist, which took another six weeks so there was more waiting and wondering. The gastroenterologist I saw at the end of November was straightforward. He asked me about joint pain, ordered a few more lab tests, and then tested my ferritin. This was the first time I heard about ferritin.
My wife was away at a work trip the day my lab results arrived in the mail. My ferritin result came back off the charts with the first number high in the 9000s. Before she was home that night, I spent some time with “Dr. Google”. I found the Canadian Hemochromatosis Society’s website and realized the gravity of my situation. My wife came in the door and I said “I think I know what I have.” It was called hereditary hemochromatosis (HHC).
Because of my enlarged nodes and the extreme level of ferritin, the specialist wasn’t convinced it was just HHC, but could also be leukemia or lymphoma. Before I knew it, I was ordered for an urgent CT scan. I was left with a message of impending doom right before the Christmas holidays along with waiting on the genetic test results for HHC, which I would not receive until early 2010. Furthermore, no one in our family has ever been diagnosed with HHC, at least that I was aware of, which made the doctors even more skeptical it was solely HHC.
I received a positive genetic test for HHC (homozygous C282Y) in mid-January. I was referred to a hematologist, who ruled out the additional scare of lymphoma and got me started on a weekly phlebotomy regime in February which will continue as long as my hemoglobin stays reasonable and my ferritin levels are lowered to a target of 50.
Even with my out of the ordinary lab results, it still took five months to get my diagnosis with HHC. I am a young, healthy man with no other medical problems. I did not have unusual abdominal pain or fatigue. Out of all the symptoms that could be attributed to HHC, I only ever experienced joint pain in the thumb and forefinger of both my hands. I had gone to the doctor about this four years ago, which he and I both chalked up to repetitive stress from daily computer work.
I realize that had I not had the test from my insurance company, I am sure I would have suffered more severely from HHC within the next decade. I now encourage my friends and acquaintances to have their ferritin tested by their doctors whether they have HHC in their family or not particularly if they have any of the following symptoms:
- arthritis, especially in their hands
- chronic fatigue
- loss of sex drive (libido) or impotence
- lack of normal menstruation (amenorrhea)
- abdominal pain
- high blood sugar levels
- low thyroid function (hypothyroidism)
- abnormal liver function tests, even if no symptoms are present
Transferrin saturation percentage (TSAT) is also an important diagnostic that if elevated, is a good indicator that HHC is present.
The Canadian Hemochromatosis Society has helped me understand the ins and outs of this condition. I’ve been told that I must be the quarterback of my own health and stay on top of my treatment and conditions related to HHC. I’ve pushed to see not only a hematologist, but also other specialists like cardiologists, gastroenterologists and so on because HHC is a multi-system disorder, especially depending in the severity of its impact when diagnosed.
Now, six years after my diagnosis, I am managing my iron levels well and am continuing to live my life to the fullest. I wish the best to those of you similarly affected with HHC as well.