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Wednesday, July 22, 2009

Hemochromatosis - Recap Of Things I Have Learned

I borrowed this article from The Stephen Cobb Blog
Fresh perspective, forward thinking, informed by the past.

And the Damage Done: Hemochromatosis recap
by scobb on July 20, 2009

The following is a recap of things I have learned from my partner’s experience with hemochromatosis, a.k.a iron overload. I wrote this up for a support forum which is private, but I thought it would be helpful to make it available to anyone looking for information on this insidious condition. BTW, the circle+arrow symbol on the left is the alchemical symbol for iron, and yes, it is the same symbol that is used for the planet Mars and for the male of the species (I’m not going to touch that one, I have a hard enough time avoiding “ironic” puns when writing about this stuff).

[Disclaimer: I am not a doctor. Seek medical advice before acting on, or drawing conclusions from, anything I say here. By all means Google this stuff, but do so sensibly (check the bona fides of the folks writing what you read, distrust any site that is selling a cure, and look for the HONcode which is a good sign).]

When blogs or online forums mention hemochromatosis, also known as iron overload, they often leave you with more questions than answers. This is not surprising because hemochromatosis is widely misunderstood (and widely under-diagnosed e.g. if you know someone who has been diagnosed with chronic fatigue or fibromyalgia you really should check out hemochromatosis–if untreated it can kill).

You often hear “hemochromatosis can be treated” as though that was the end of the story. Not so… It is true that blood-letting or phlebotomy can reduce the amount of excess iron in the body (which gives the condition its name). However, most hemochromatosis is hereditary and cannot be cured. A person who has hereditary hemochromatosis today has had it since birth. The presence of excess iron in the body over the years may have done irreversible damage before the condition is diagnosed or treated. And getting treatment is seldom as easy as it should.

I know this, because my partner has hemochromatosis which is being treated with phlebotomy, but she nearly died from, and has been disabled by, the effects that the iron overload had on her all those years that it went undiagnosed.

So how does hemochromatosis disable a person if not treated? Let me count the ways. It leads to iron build-up in the joints, the heart, the liver, the gall bladder, and glands like the adrenals, thyroid, and pituitary. (More in a moment on what those things means to one’s health).

Untreated hemochromatosis leads to cirrhosis of the liver even in people who don’t drink, and hastens cirrhosis in those who do drink). It can eventually lead to liver cancer and contributes to heart disease. Have you got any family members who have liver problems but swear they don’t drink? They may be telling the truth. Pay particular attention if you have Irish ancestry–hemochromatosis is more prevalent in Celtic genes (see “Celtic Curse“).

Remember I said hemochromatosis was hereditary and often incorrectly diagnosed? My partner had surgery on both shoulders then had her gall bladder removed way before any doctors connected the dots. Looking back, her mother died relatively young, of a massive stroke. Her mother’s sister died very young from liver cancer. Her father had a triple bypass at 50, then disabling and mis-diagnosed liver disease at 60. Serious heart problems contributed to his death at 70 and that of his son at 40 (ages approximated in the interests of privacy).

An uncle still living has been disabled (and hammered financially) by severe heart problems. Hemochromatosis was at work in all those people but never diagnosed.

So what happens when the adrenals, thyroid, and pituitary fail or malfunction due to hemochromatosis? The list of consequences is long, but worth noting, so here goes:

Adrenal insufficiency or failure: Muscle weakness and fatigue; Weight loss and decreased appetite; Darkening of your skin (hyperpigmentation); Low blood pressure, even fainting and loss of consciousness; Salt craving; Low blood sugar (hypoglycemia); Muscle or joint pains; Irritability; Depression; Pain in your lower back, abdomen or legs; Severe vomiting and diarrhea, leading to dehydration. (Note: there are variations on adrenal issues, c.f. chronic adrenal insufficiency, hypocortisolism, hypocorticism, Addison’s disease.)

Adult Growth Hormone Deficiency: Weakened heart muscle contraction and heart rate; Increased arterial plaque and blood pressure; Elevated lipids or fats in the blood (cholesterol, LDL, triglycerides); Decreased exercise capacity due to decreased cardiac output and decreased metabolic rate; Abnormal body composition (increased abdominal obesity–waist to hip ratio); Decreased bone density due to decreased synthesis of bone; Increase in fractures and osteoporosis; Decreased muscle strength and muscle size; Decreased lean body mass; Increased fat mass; Low blood sugar (dizziness or fainting weakness or tiredness, headaches); Poor concentration or memory; Decreased sexual desire; Sleep problems; Shyness and withdrawal from others; Nervousness or anxiety and decreased social contact; Sadness or depression.

Hypothyroidism: Fatigue; Weakness; Weight gain or increased difficulty losing weight; Coarse, dry hair; Dry, rough pale skin; Hair loss; Cold intolerance (you can’t tolerate cold temperatures like those around you); Muscle cramps and frequent muscle aches; Constipation; Depression; Irritability; Memory loss; Abnormal menstrual cycles; Decreased libido.

Now, I can honestly say that in the past 5 years my partner has experienced all of the above except for the darkening for the skin. And in fact, I left one out. At the end of the list of symptoms of adult growth hormone deficiency cited by the Human Growth Foundation is this one: Feelings of hopelessness. When I read that I thought to myself: “Surely it would be a miracle if you experienced all the other symptoms and didn’t have feelings of hopelessness.”

I know my partner has feelings of hopelessness, even though she is an amazingly strong person. She is taking supplements to cope with the 3 deficiencies she suffers (thyroid pills, cortisol pills, and daily growth hormone injections). Although the side effects of these can be very unpleasant, and it’s very tricky to get the mix right, she is making enough progress to fend off the worst of the depression (she is also taking pills for that of course).

All of which could have been prevented! Let me repeat: It was all preventable. A simple and relatively affordable genetic test is conclusive for hereditary hemochromatosis. Monitoring iron levels in the blood can indicate when phlebotomy is required. Unfortunately, due to a bizarre set of circumstances the iron tests that are vital in dealing with hemochromatosis are not routinely performed in America and, iron-ically, phlebotomies for hemochromatosis are a lot harder to get than you might think.

Would you believe that blood iron saturation tests were the subject of massive fraud cases settled in 1996, causing the tests to be dropped from “standard” panels. That single twist of fate kissed goodbye one of the best screening tools for hemochromatosis in the very same year that doctors discovered most hemochromatosis was genetic. Which was also the year that many clinics started to refuse blood donations from people who had lived in Europe (due to mad cow disease).

Guess who had lived in Europe? My partner and I. Guess who were big blood donors until 1996? My partner and I. And 1996 is when her health started to decline. Very slowly at first, but then accelerated by menopause (monthly blood loss due to periods tends to fend off the effects of hemochromatosis in women so they are often diagnosed later than men, but with more damage done).

And guess why many U.S. clinics won’t take hemochromatosis blood? Because they have no code for it in the system. (That’s what I heard and I’d love to be proven wrong, but it took our local health system four months to give my wife her first phlebotomy after her hemochromatosis was confirmed).

So there you have it, more than you ever wanted to know about hemochromatosis, from how you spell it to what it may do to you if not properly diagnosed and treated.

Of course, I should remind you I AM NOT A DOCTOR, so please seek medical opinion on this stuff if you suspect it is present in your life or that of your loved ones. But DO NOT ASSUME that your doctor, however kind and/or dedicated he or she may be, knows as much about hemochromatosis as you do, now that you have read this.


Blogger Noela Mills said...

Thanks for sharing all this info. I have just been diagnosed with hemochromatosis and the more research I do, the more the puzzle pieces are fitting into place!

8:34 PM  
Blogger leo said...

Thanks for sharing all of these information. As time goes by, many cases and sickness can be treated.
phlebotomist certification

8:17 PM  
Blogger mcihelle said...

thank you.

I have it, following diagnosis of a nephew and sister, I was tested and my husband also has the faulty gene so we could have passed it on to our two boys.

I was under the treatment of my GP but was not happy with the test result so insisted on being referred to a heamatologist. I was overloaded with iron and have had to have veenersection since, I would have been mistreated if I had not insisted on being seen by a specialist. Get help and demand to be referred to a specialist xxx

11:02 AM  
Blogger Reine Fowajuh said...

I am also writing a blog about hemochromatosis[] and I was hoping for some inspiration about other sites or books to keep me informed. I love your blog and I wanted your permission to mention your blog on my page. I want to give readers another website to look at[yours] for more information.

12:24 AM  

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