Hemochromatosis: What everyone should know
Posted May 5th, 2015 by webadmin
By Patty Heckman, mother of four, grandmother to five, cousin to 30
“Eric is dead! Aunt Patty, Eric is dead!”
It all began the night of October 24, 2012. First, my sister called and she was screaming so hysterically I couldn’t understand her. A minute later my niece called and stated, “Aunt Patty, Uncle Eric is dead.” I immediately thought, “Oh God no, there’s been a mistake.” My son, James, drove me to my brother’s house and sure enough there was the paramedic truck, an ambulance, and police. The police wouldn’t let me in; they wouldn’t let me see my brother. His identical twin was out front with our sister and we were being held off by the police. I couldn’t believe what I was hearing. “If only I could see my brother,” I thought, “Then everything would be alright.”
I can’t remember a worse night in my life. There was no reason, no explanation. The coroner would have to give us answers. We were told it would be months because they were short-handed and back logged. John, Eric’s twin, and I headed home to tell our father. More disbelief. His second child, dead.
As family and friends gathered to celebrate Eric’s life, we decided to have a second autopsy. That decision literally saved our lives. The coroner had come back to us in January with a cause of death of diabetes and ketoacidosis. A week prior to his death, Eric had lab work done for a doctor’s visit on October 23rd. He had a blood sugar of 292 mg/dL and 4+ Ketones. He was given Metformin and told to take half a pill. He left work early because he didn’t feel well, and died early the next morning. We were left with more questions and no real answers.
In February we got the results from the second autopsy. Eric had iron deposits in his pancreas, liver, adrenal glands, thyroid, heart and lungs. He had hereditary hemochromatosis. Doesn’t the name mean we all could have it? There was a good chance another one or two or three of us have it. There were 6 of us after all. Not only us, but our 30 cousins could also have it. Have they had problems? Has anyone else died? Wait, cousin Jimmy died of liver cancer. I remember from Nursing School that hemochromatosis is a condition where the body retains iron in the organs. I needed to get the word out. I called those I had phone numbers for; I emailed others and Facebooked as many as I could. At one point I spoke with Aunt Dorothy, my Dad’s sister, who told me she got checked. She stated that her doctor said her hemoglobin is 14 g/dL and she is fine. I tried to explain to her that she may be fine, but her two boys could be at risk.
All of my siblings are carriers except for John, Eric’s identical twin. John is positive for two copies of the C282Y mutation on the HFE gene. He was found to have a ferritin level of over 6000 ng/mL. A normal ferritin range for men is 20-220 ng/mL.
I believe the first signs my brothers encountered were the bronzing of their ankles and toes. They each went to a dermatologist and they were each given “salve” to put on the rashes. The first doctor I spoke with about hemochromatosis was my dermatologist. I gave him two books I found very revealing on the subject. He stated to me he read about hemochromatosis during his medical training, but hadn’t given it much thought until he saw me reading The Bronze Killer by Marie Warder. This was a very common statement from physicians to which I have spoken about this disorder
Eric was 47 when he died. Weeks before his death, he had complained of fatigue, thirst, and shortness of breath when climbing stairs. He saw his physician and had labs drawn one week before he died. I wonder…if his physician had put the symptoms together, …if he had noticed the blood sugar and ketones, the elevated liver functions, could he have done something to save him? Probably not. I am resigned to this outcome, but can I wake up others in time? This is a recurring theme in my mind and in many of the stories I’ve read and heard. My brother was not in poor health and had no history of medical issues. I believe that by adding a serum ferritin test to the standard blood test (also known as a CBC, or Complete Blood Count), Eric’s death could have been prevented.
I want to raise awareness, educate physicians and patients, and inform families of this disorder, and how it can take a life, devastate a family, and go unnoticed time after time. It is apparent to us the symptoms are attributed to destruction of the organs. In other words, diabetes, cancer, cirrhosis, and other diseases are diagnosed instead of the underlying cause, which is hereditary hemochromatosis.
Patty (at far left) with members of her family
Fortunately for my family, Eric’s identical twin is doing well. His ferritin is down to 80 ng/mL after 19 months of weekly phlebotomies. His liver functions and glucose are normal. His hemoglobin has changed from 16 to 14 g/dL, but has not varied any further. He has continued to work a full time job, engage with family members, and live life as an active participant. He looks great and we never thought he looked ill, but of note is that the gradual change in appearance and degradation of health can be easily dismissed as normal affects of growing older. We are all being tested for iron levels every 6 months to 1 year. Even though my sister and I are only carriers, we have noticed that our ferritin and iron saturation levels are higher than last year. We are going to donate blood. We are testing our children and grandchildren to see if they carry the mutated genes. Of vital importance is that future generations learn early on about this disorder.
As for Aunt Dorothy, I explained to her hemoglobin is not an indicator for hemochromatosis. Physicians repeatedly have used this test to put family members at ease. John’s hemoglobin after a year of weekly phlebotomy has not strayed from 14. We have found physicians don’t know what tests to order. Please don’t let your physician off the hook by telling you that you are fine after a normal hemoglobin test was performed. Ask specifically to test for serum ferritin and a transferrin saturation percentage.