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.