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.
References:
http://www.endocrineweb.com/hypo1.html
http://www.mayoclinic.com/health/addisons-disease/ds00361
http://www.hgfound.org/res_aghd.signs&symptoms.html
http://www.irondisorders.org/Disorders/Hemochromatosis.asp
http://live.psu.edu/index.php?sec=vs&story=10913&pf=1
{ 18 comments… read them below or add one }
I have HH and have had it all my life. I started presenting with symptoms at 33 after being on multivitamins with iron. I was never even tested to see if I was anemic. This disorder is easily identifiable through the use of relatively inexpensive tests. If the doctors would have used those tests, they would have discovered that I never needed iron. Doctors and insurance companies have not ever been in the business of preventive medicine. Healthy patients don’t produce much income. The money that could have been saved by the insurance companies by simply drawing a few tubes of blood and running 3 to 4 inexpensive blood tests is in excess of $200,000. I am finding out now how extensive the damage is so that cost is fairly conservative. How can we find advocacy in a system that discounts this disease? Sickle-cell, Tay-Sachs and Type I diabetes are routinely tested for. Yet this one eludes the medical field because the bulk of the damage is culmulative. Dare I say it is mostly found in the Caucasian population? No one tests for it until the patient has symptoms who knows how pervasive it is throughout America?
Hi Stephen Sorry to hear your wife has had such a hard time with this shockingly unrecognised, by General Practice (GP) Doctors, ‘common’ genetic illness. I recently found out that I have Genetic Haemochromatosis (note English spelling!) last year at the age of 48, after joint problems (some times the first indicator of GH), fatigue and liver issues. I was lucky that it only took me 2 years to get diagnosed, and that when I pushed for a private consultation it only took 2 GPs for me to get referred to a Rheumatologist! Although the NHS is great, I have a paid up membership of Benenden, a society that pays consultancy fees to speed up referal processes that can be slow – especially if GPs don’t want to refer – a problem when the illness is not even recognised by them! Even with my membership (no initial cost to NHS through Benenden referal),- the first GP said that “no I had Osteo-arthritis as per my private MRI Radiologist reports, so I won’t refer”, although I could feel joint pain in all my major joints getting worse which underlined a systemic problem as far as I was concerned. The Rheumatologist I eventually saw privately, thankfully put me down for a Ferritin test amongst others, which the NHS consultant Rheumatologist I saw later, worryingly told me they did not routinely screen for! This showed my levels to be alarmingly around 2200 (normal max 300). After 20 litres of blood lost over the last year my Ferritin is down to around 20, although my joints are I feel getting worse, venesection usually does not undo joint damage, although stressed organs, like my liver, have hopefully recovered to some degree.
The problem is there is no one consultant that I have seen that has said what I should be checked out for, although Haematologists are monitoring my levels – it has been up to me to push for further consultations with Rheumatologists, heart specialists and probably next endocrinologists as my fatigue also still exists. My Hepatologist has pushed for a Liver biopsie, after normal Fibro and Ultrasound scans, she says joint problems might be nothing to do with haemochromatosis, venesection might just be a placebo effect and that she wouldn’t have bothered having my testosterone level tested (my GP did after I asked), but is quite happy for me to munch away on paracetamol after diclofenac for my joints nearly did for me – she sees the problem as being purely one of the Liver – funnily though my brother 2 years older than myself, also with haemo has had his Right Hip recently replaced (which I’m also currently putting off – he’s a firefighter!) and an operation on knee cartilidge, he was not aware of his status until my diagnosis – his Ferritin was only 600 and he had no raised liver function!
I for one feel that the governments and health services of both the US and UK have badly let down those with a Celtic genetic lineage – I was not aware of a Celtic connection in my family, although the genetic illness has been around long enough to also permiate the general population. It is well known in the scientific community that Iron is toxic in doses that are surprisingly small i.e 200mg of an Fe2+ compound can provoke a toxic response – see the wonderful – ‘Natures Building Blocks’ by John Emsley. It obviously makes sense that those loading Iron are being slowly systemically poisoned.It would seem that the US Insurance system that is happy to spend loads on treating symptoms of those who are covered, as per Suzannes comments above, may be just as bad as the UK system that does the opposite, but ends up supporting later an aging and damaged population which could have easily been prevented.
Best Regards
Mike Chappell
Bristol England
Mike. The reason your joints do not “feel” any better is because the bone marrow turning iron into blood (lost through phlebotomy) happens around the ends of the bones (my understanding of research). So it is in the joins that you will feel the effects of your body FINALLY using the iron stores for some good.
I am a Soldier, not a physician. But I have read a lot on this disorder since my family has it in their genes.
I am 47 years old and had some ruitine blood tests done and the nursing station called me to say I need to have more tests done because my iron was so high. The ferritin levels was 650. After I had the other tests for Hemochromotosis it came back I had one defective gene. I went to a specialist he wants to do a liver biopsy. I asked him if the test could be a mistake as I do not have the bronze skin. He discovered a small goiter. He now sent me for more blood tests just to make sure there was no mistake. I will see him again on Thursday. One problem I had is I could not get out of bed at one stage and walk straight away, my feet were stiff and my heels extremely painfull and if I sat for a period of time would have to rub them and walk on my toes first before I could eventually walk on the full part of my feet. The problem comes and goes though. I sometimes get a swollen tongue and feel I can’t swallow and I get very short of breath. I also get a pain in my upper left side of my abdomen. If I don’t have Hemochromotosis, why are my ferritin levels so high. I also want to make a note that I do not drink alchohol. This is very scary and the future looks bleak if it is the diagnosis.
Janet — Sorry to take so long to respond. The blog has been experiencing technical difficulties. Also, I have been very busy setting up a new blog just for the stuff I am writing about Hereditary Hemochromatosis. It is called CelticCurse.org and I am building a collection of links there, pointing to information you might find useful.
I am so sorry to hear of all your troubles. In my reading it seems the bronze skin only appears in about 25% of people who have hemochromatosis. Joint pain is the most common symptom. Fortunately, some people report improvements in that area when they get their iron levels under control.
Sadly, you are not alone experiencing these problems. And tragically, so much of this could be prevented by greater awareness and understanding of hemochromatosis. Over time I hope to do my part to create that greater awareness and understanding of hemochromatosis that we need so badly.
Janet — So sorry to hear of your suffering. Hopefully you can find the right diagnosis and treatment. What I am about to say has to be prefaced with this: IANAD — I am not a doctor. However, in all my reading there is no indication that the bronze skin condition is “required” for hemochromatosis. It is just one of a range of of ways in which the condition manifests itself.
A liver biopsy is one of the main tests for hemochromatosis, but a DNA test is required to tell if you have hereditary hemochromatosis. This is an important test because it can indicate other family members who might be at risk.
While the excess iron can almost always be reduced by frequent blood donation or phlebotomy, the effect of the condition on your internal organs and joints can be harder to undo, so catching this early, particularly in young family members, is very important.
I would like to see regular screening for excess iron, particularly in ‘at risk’ groups like persons of Celtic ancestry. It could prevent so much suffering and the cost of screening would be way lower than dealing with undiagnosed hemochromatosis.
I wish you all the best, hang in there…Stephen
Thanks so much for responding to my comment. Here is South Africa this is apparently not very common or diagnosed. My grandparents were born in England and Scotland and I never knew how important it is to know your family tree until now. I will certainly inform family members who may be at risk to prevent their suffering as soon as I know for sure. Thanks again and all the best..
Janet
I was diagnosed through a DNA test in 2005 while on Active Duty at the age of 41. I had been suffering chronic fatigue and pain for years and if it were not for a persistent intern I may be in very bad shape today. I went to see him and told him, this makes no sense. I work out all the time, don’t miss work, and I am a great worker, but I feel terrible every day. Two months later I get a call from him at home. He had searched through my years of bloodwork and noticed that my blood was really good, too good in fact. I was on the high side of normal fro hemaglobin, and he thought that pointed to hemachromatosis. So he requested more blood work and found my ferritin very high….hmmmm, so he goes to order a DNA test for me and his boss (an experienced Dr) told him he was out in left field and said no to the test, so he went to a hematologist…who also told him he was out in left field. So …. he knew he was right and ordered the test anyway. Bingo! He was right. Now how crazy is that?
So I have been having my blood-lettings for years now, but my body is pretty broke. I am 46 years old, have had knee surgery, foot surgery, double hernia surgery, left shoulder surgery, right shoulder requires surgery but I refuse to do it. Every surgery I have gains me more scar tissue and more pain. I have chronic pain all over my body and have constant head pressure that started about 10 months after my phlebotomies began. I think that is from the stress of being in pain all the time is causing, plus TMJ. I also have Asthma, double vision, cracked teeth, spondylosis, degenerative disc disease L4 and L5, Ulcerative Colitis, Diverticulitis, GERD.
I have been considering chelation. Has anyone done this? I have heard that phlebomies only reduce the iron in the blood, but does not reduce the IRON that has deposited itself in joints and muscles.
Michael,
I am so sorry to hear of all your suffering. I am Stephen’s wife and also a HH sufferer. Your problems and symptoms sound very, very similar to mine. At present I cannot work and and wracked with chronic pain and am fatigued beyond belief.
I also had surgery on both shoulders (the second one was easier because I knew what to expect – I slept in a recliner for two weeks which was much better than a bed.) Anyway, I attributed the shoulder problems to the surfing I had done in my 20s. Then I thought – what? it took 30 years for the damage to show? Then I had gall bladder surgery. At present I should be having both knees done but I hear that is very, very painful.
Anyway – what I’m trying to say is that NO doctor will say that all of our joint problems, gastric problems, fatigue, etc., is attributable to HH but, if you listen to HH sufferers like us, it’s just TOO coincidental that we all have bad joints, etc.
As far as actually REMOVING the iron we have in our systems the only treatment would be chelation therapy. I know of no country that offers this as the normal treatment option except for the Netherlands. There is a drug called “Exjade” (I’m pretty sure that’s the name.) I have no idea how long we’d have to undergo this therapy, it’s side effects, or how effective it is. Unfortunately, I think all we can do is treat our symptoms as they appear. Sad, but true.
Good luck and I hope you find some relief and stress-free days.
Chey
Chey,
Thanks for the reply. I have had a Dr. that tells me all of my problems are very like from the HH. She also told me that the damage I have is irreversable and that even chelation won’t fix that. Phelebotomies are really are only answer for keeping it from getting worse, but even that wreaks havoc on the body after awhile. I do know there is a place in Virginia that does Chelation as my therapists husband had it done there. If you want to communicate directly my email is miked1@comcast.net
Hi – and thanks for the information.
I was diagnosed with haemo (homozygous C282Y) in July 2010 as an outcome of many tests to determine the cause of elevated liver enzymes. According to the MRI (ferriscan) and blood work, my Ferritin level was at 4500 ug/L and yet I had not suffered any obvious symptoms! From what I read here and on other sites, people with a level of just 600 can suffer greatly. How come I am still able to stand, walk and carry on a normal life? I’m confused any my haemotologist is astounded.
After 4 months of venesection my level is down to 1000 ug/L and (cross fingers) should be in a normal range within a couple of months. Getting theraputic venesection in Australia is not too difficult – even if they can’t use the donated blood.
What is the treatment to remove the iron, for hemachromatosis if you are on coumadin and the blood banks won’t take your blood. I was told it would be dangerous to me to have any blood removed because my blood was already so thin. Taking Warfarin, Plavix and Aspirin, daily. I have six heart stents. Will get the test for hemachromatosis on 1/3/2010. What test do I need to demand that my Dr. order?
Hey Joe, one thing that concerns me about your post is your use of Aspirin. HH is tough on the GI system, and if you have HH aspirin is very bad for your GI system. Something to consider should you be diagnosed.
Dear Joe,
The only treatment available (at this time) is good, old-fashioned blood letting (phlebotomies.) In a normal phlebotomy they take out more blood than usual. Your doctor orders the phlebotomy which is often done in a clinic/hospital/chemotherapy lab. You don’t go to normal blood donation sites for a phlebotomy (although they are not supposed to refuse you, many normal blood donation sites will turn you away.) If the blood donation site is familiar with HH they may have a special “waiver” for treating you. (Loooong story about bureaucratic insanity.) Many blood donation sites will draw your blood and then have to throw it away!
I’m sorry my reply is too late for your doctor’s appt, but most of the answers you need are at http://www.irondisorders.org. We’ve met the people there personally and they are all really caring and cool. Good luck with your doctor. (BTW – if you have HH, he should probably refer you to a hematologist.
Chey
I too have HH, diagnosed finally at 55. I had been complaining to my Doctor for years about pain in my knees and hands but nothing showed up on x-rays and my tests for RA always came back negative. It wasn’t until my liver numbers rose – and I saw a gastroenterologist – that a ferratin test was done. My ferratin level was 6855.
Luckily, it only took eight months of twice weekly phlebotomies to bring me down to below 50, but I have also been diagnosed with cirrhosis. (I must admit that I was a bit of a drinker, especially after my wife died from cancer, but those days are done.)
I have been on a maintenance schedule for another eight months but still am in a lot of pain from my hands, knees and hips. I don’t know if that will ever go away. A Rhumatologist that I saw just shrugged and said “You have Hemochromatosis, I can’t help you” and left the room. Nice.
Don
Hi Stephen and Chey…I would love to hear your thoughts on my symptoms that I list in my blog. I was the youngest diagnosed in my area over 12 years ago, and I am just now suffering from all of the joint pain. I thought I was going crazy as I am only 36, and no one could link it to my HH. No amount of research I did added up to my symptoms until I found Hashimoto’s disease. It took me 10 months to convince a doctor that my thyroid was having problems and that they needed to treat me. Thanks again for this blog.
Hi – My heart goes out to you. Your blog is a GodSend to me, because I have and am still suffering from everything in your blog.
The most upsetting response to this whole situation is having “medical professionals”, who are not familiar with HH, tell you that it’s all in your head.
I feel like I have been handed a death sentence with no appeals available and there is not a night that goes by that I don’t pray that God just let’s me go. But, since I am still here tells me that God is not done with me yet.
I refuse to go to a “medical professional” because of the minimization of the illness and them almost killing me through overmedications and unnecessary tests. So, as bad as this “condition” is, my heart lightens up a little when I read blogs like this, because I know I’m not alone.
Why does everyone refuse to help you? Why do “professionals” (i use this term loosely) minimize this tragic condition? Where do I go from here?
I’m just lost and need to vent, so thank you for posting your blog.
I just want to say thank you for your blog. My husband was diagnosed about 2 years ago and it has been a struggle to get any doctors to listen to what he is going through they all keep saying this is an old persons disease and minimizing all his symptoms as if they mean nothing I am so frustrated and do not know what to do anymore!!!