Difficulty Getting a Diagnosis of Hemochromatosis (and other damage done)

Back when I was writing about hemochromatosis on my personal blog I got a lot of questions about diagnosis. I thought I would share how I tried to answer them. For example, Stacey asked "How was your wife diagnosed?" Here is how I responded: Thanks for your question Stacey. You ask how my wife was diagnosed. It was our family doctor, Dr. Carol Beechy, who first suspected hemochromatosis. She had dealt with a case many years ago and this is often how it goes.

I don't think the current generation of family doctors in America know to look for hemochromatosis unless they have encountered it before (for example when they get a new patient who moves to their area and that person already knows they have the condition).

One survey of hemochromatosis sufferers indicated that it took an average of 9 years from when the person started experiencing the symptoms of hemochromatosis until they were diagnosed. Not 9 weeks or 9 months, but 9 years. And of course, that is 9 years during which toxic levels of iron in the body can be wreaking irreversible havoc on joints and organs, mental state, and more. As a result, far too many people are eventually faced with the tragic irony of finding out why they are sick, but too late to undo a lot of the damage.

Another complicating factor in the diagnosis of hemochromatosis, which may explain why so many of the people commenting on my blog posts about hemochromatosis are women, is the persistent--and in my opinion erroneous--medical thinking that hemochromatosis in women is rare. (This is a classic example of how slowly general medical thinking moves and I will write more about it when I get a chance. Yes, it was true that haemochromatosis was mainly a man's disease: 100 years ago!)

Stacey, you also asked about weight gain. My wife first started to gain weight around 1997, which turns out to be the same time frame in which our local blood bank started to refuse our donations (we had lived in Scotland for several years during the outbreak of mad cow disease--something which understandably prevents you from donating blood in America today).

My working hypothesis is that 1997 is when the iron really started to build up in my wife's system and affect her overall metabolism. There was no obvious change in diet or routine to explain her weight gain.

In fact, this is a classic example of one of the medical syndromes that I think we need to tackle in the fight to increase knowledge and awareness of hemochromatosis: When a woman approaching middle age starts gaining weight for no apparent reason she is often told "It's just that time of life" or "That just happens."

However, very few things "just happen" and unexplained weight gain may well be one of the first signs of the metabolic disorders associated with hemochromatosis, possibly triggered by a decline in monthly blood loss (a normal menstrual cycle typically prevents iron build-up).

Finally, let me address something you know already: diagnosing hemochromatosis is often just the start. Unless the condition is caught early and treated promptly, it will cause a variety of problems over time, some of which are hard to diagnose. For example, my wife's endocrine system is seriously messed up. I know that is not the technical term, but I think several of the doctors she has seen would agree, including the 3 endocrinologists who could not reach a consensus on what is messed up and why.

Does she need cortisol? Is there human growth hormone deficiency? What about hypothyroidism? These and other questions have been considered. Some treatments have been tried but no good results so far.

So Stacey, treatment of the underlying hemochromatosis is handled by a hematologist and recently we found one who has had a fair amount of experience with haemochromatosis. But his involvement stops with the control of iron levels. Beyond that it is going to be one or more specialists who figure out how to end my wife's suffering, if we can find any that feel inclined to try.

Comments

  1. I find it so interesting that it had her adrenal and endrocine systems messed up. I had hives, after a hysterectomy. I now believe it was the start of a three year horror story. All to find out I have HH. I told every doctor that I ached so bad and had chronic fatigue...they just keep giving me more drugs. I was on predisone forever....I have a really long story as everyone has with this bit it is just so frustrating to now know I could have just been bloodletting and not went thru all of this.

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  2. I am game for any studies that anyone in the medical field want to challenge me with ,I am sure myself and many others would love a true scienticfic study to base thier facts and findings of the damages that follow the de-ironing ,and its on going ripple affects for a percentage that has no answer ,just maybe there is another missing link . Any educated opinions are welcome ,if any .

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  3. I am in the process of being tested... this possible diagnosis has only come to my attention in the past day or so... and this post was the first I heard of weight gain. Many of my symptoms started at puberty... including weight gain...
    I wish my dad were still alive... he was once diagnosed with polycythemia... had his gallbladder removed, suffered through several cancers, and suffered until he died... with all kinds of ills.
    I always thought it very curious that when i was pregnant... I lost weight... 40 pounds... and my daughter was 9.5 pounds at birth... after she was born I was normal size.... and then whilst I was breast-feeding her for more than a year... on a vegetarian diet... I gained nearly 100 pounds...
    I tried taking those prenatal vitamins... but I couldn't do it... they made me feel ill... so i didn't take them... I did feel a bit guilty... but now I think I did the right thing...
    I'll be surprised if this is not the answer to all my troubles...

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  4. I have suffered for many years being undiagnosed. When I was younger I was constantly told I had PMS. No it was not PMS it was iron build up and only after I would get my period I would feel better. When I was pregnant I lost weight and could not figure out why when I ate all the time. After having my child I gained so much weight. Shortly afterward I went into menopause and the problems really started. All my doctor could see was I was fat. I kept on saying I don't know why I have such a weight gain because I eat really healthy. He just did not want to hear it. To him if I just lost weight I would be cured. I have joint pain, stomach pain, depression, heart palpitation, I was told by so my doctors nothing was wrong with me and maybe I should seek counseling. I finally got one doctor to not only test my iron but my ferritin, tibc and saturation levels. Even when they all came back bad they still all rejected the idea. I got one doctor who said she would test for Hemochromatosis and sure enough it came back positive. She said she was shocked. Why were they so damn shocked when I had ever symptom?

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  5. I have been having issues with my digestive tract, anxiety, depression, my skin is discoloring, gallbladder removed (no stones) circles under eyes, SUBSTANTIAL WEIGHT GAIN AROUND MENOPAUSE, kidney atrophy, no doctors want you to ask for testing of any kind. They think I have several conditions unrelated. Has anyone had these symtoms? Has anyone had boils as a symptom? Please answer

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  9. This is not true. I counted ciearols from my former way of eating and then when I went on a low-carb for 6 weeks. I lost 22 and hit my goal. During that time period, I ate roughly the same amount of ciearols. Granted on days, I was a couple hundred under, but on days, I was a couple hundred over. In my case, I was eating roughly the same amount. I've come to believe that ciearols are not the deciding factor.

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  11. So I am one of the lucky ones whose family found out about and was diagnosed with hemochromatosis several years ago so that when I started feeling persistently unwell and well, OLD at only 46, I decided it was time to go get the HFE test. So I have it, dang it. Thankful that I know what is up without experiencing some of the horror stories I have read about and what my own mother went thru with misdiagnosis after misdiagnosis until finally my younger SISTER had a routine medical DNA screening for being pregnant over 40. What I want to know is, once I find out what my iron levels actually are, and start managing my iron levels, will it be easier to lose weight? I have been trying for YEARS and gradually going up instead :( Please tell me I will start feeling better soon and be able to work off this extra weight I have put on. I grew up a skinny little thing and feel like she is still in here somewhere, waiting to be let out.

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