I recently found out that I am homozygous H63D. I have been hypothyroid for many years so it seems that my pituitary is affected, was recently found to be type 2 diabetic so my pancreas seems to be affected too, I am having to have a nuclear heart scan for possible damage to my heart and I am told that the fibrosis on my liver is so severe it is probably cirrhotic. I am being refused venesection because my ferritin levels are never above 277 ( I am a 60 year old female) and my saturation percantages are usually about 48%. Everything I have read says that if ferritin levels are about 1000 then organ damage becomes more likely. I seem to have organ damage at much much lower levels. Has anyone come across this before. The liver consultant is saying that the fibrosis/cirrhosis has nothing to do with possible iron overload and has dismissed all my other symptoms. I feel that by being refused venesection, as every day passes, I could be getting increasingly poisoned by toxic levels of iron in my blood and that if they would treat me, the damage to my liver might decrease/improve.
Hi Ruth...this really is a mystery. If these problems aren't being caused by iron over load, then what are they saying is the cause? I'm 282y homozygous, and my ferritin level was 2000. I have iron fist, that was my only symptom..luckily organs are fine.
They do say with hh, that everyone is totally individual, and even though your level is within normal range, perhaps it has done some damage...I can imagine your frustration that you can't have any venesections...surely they can at least get you to below 50!. As your within normal range I'd ask your doctor for a referral letter to become a blood donor, and start donating blood as soon as possible. At least that would be one way to get your venesections.
I'm still having my weekly treatment. My latest level was 113. Been having weekly venesections for nearly a year now. Not much longer to reach the target of below 50.
Well, I wish you all the best. Please keep in touch...really pressure them to explain to you what it is that has caused your organ damage. Surely the iron must have something to do with it. Keep on at them. Meanwhile, become a blood donor...that will make you feel more at ease, as you'll be starting some venesections at least. Keep in touch. Mike.
It is ridiculous that your doctor has refused you a venesection because your ferritin levels are never above 277! Is it possible for you to donate blood to a blood bank instead or see a different doctor? Ideally ferritin should be around 50 to minimise organ damage and saturation levels are also another important factor. I have hemochromatosis with both genes but I am not in any way an expert. I am the same age as you and experience hypothyroidism, elevated liver enzymes as well as arthropathy even though I have regular phlebotomies probably because they were started too late.
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Hi Mike,
Thanks so much for your reply. I did think about trying to go down the blood donation route but following a suspected angina attack earlier this year, I'm not permitted to donate blood. Hopefully the cardiac nuclear scan I am having in July will clarify the state of the heart, cos I don't like the look of possible side effects with chelation therapy as opposed to venesection.
I am thinking of asking for a Ferriscan to assess any iron damage though I know I'll have to pay for this privately. (Neither the liver consultant nor the GP had even heard of a Ferriscan. Particularly worrying that a liver doc is so ignorant of new options within her own field!) Having just begun to get my monthly works pension, I'd like to live long enough to enjoy some of it, so I don't mind forking out for the cost of the scan myself. IF I can persuade a medic to refer me and as no-one seems to think I have an iron overload problem, that could be a problem too.
As you say, I can't just roll over and die from cirrhosis and its complications without getting to the bottom of this, so I will continue to hassle them.
Glad to hear that you are doing well and approaching your goal.
All the best and thanks again for replying,
regards
Ruth
Hi Ruth
Strongly suggest you insist on treatment even if you have to pay. Very concerned that your medical professionals don't seem to understand HH. Am having similar problems despite having C282Y/H63D
Contact the Iron Disorders Institute and get the book to help you and give you confidence to insist on proper treatment
Hugs
Hi Mary,
Thankyou for replying. I think you are right. The liver specialist I was referred to stated categorically "You don't have HH because your ferritin would be more like 1000 and your skin would be bronze". So i ordered my own DNA test from Canada which proved them wrong and I DID have HH. So when I presented the liver (non!) specialist with the DNA result, she said "Oh, so you do have HH. But you definitely don't have an iron overload problem because if you did, your skin would be bronze. I can tell just by looking at you that iron overload is not your problem". Really?? Is that the only phrase they learn at med school about skin being bronze, which seems to be more an end stage symptom.
Have you joined the British Haemochromatosis Society? I did, afew days ago. It costs about £24 a year but you get lots of useful stuff, handbook, venesection diary (dunno if that will ever get used the way things are going!), a nifty little wrist band and a list of fellow suffers who don't mind you contacting them etc.
So far I have had arguments with both my GP and the liver doc at the hospital. Neither of them have even heard about the Ferriscan ( a special MRI designed to measure iron accumulation in the liver ) . A bit worrying...a liver specialist who doesn't know what is new and available in her field of expertise. And the health of you and I are in their hands.....frightening.
I totally agree with you about it seems like we have to pay. I am going to see my GP in the 2nd June to ask for a referral for a Ferriscan, privately. If the NHS aren't involved in the cost, how can he refuse? I'll bet he finds a way. Ferriscans aren't widely available but I spoke to the MRI department at a hospital in Oxford and they do them, IF you can get a medic to refer you. If I can prove (by the Ferriscan result) that my many symptoms ARE due to iron overload, then maybe I can demand a referral for venesection.
Doesn't it make you want to spit though? So short sighted of the NHS because if they don't get patients treated quite cheaply with venesection, it costs them SO much more in the long run when they get liver cancers etc etc and other complications caused by the HH.
Sorry to vent on you. Especially at this time of night,LOL. Does your HH cause insomnia?
I hope you get some satisfaction with your HH soon.
Thankyou for the hugs...sometimes I feel so down with it all.
Hugs back,
Ruth
Hi Ruth. Good to hear that you joined the Haemochromatosis society as well. Best thing I did joining them. They're always at the end of the phone, and they've been a great support when I've needed someone to chat to.
I'm still having my weekly venesections...was at 2000, last week's level was 113. Nearly there!!
I've registered as a blood donor, so once the weekly venesections are over, it will be heaven to be able to just go every few months, and I'm hoping it may end up just being 4 times a year. They say that's about average.
When I had the scan on my liver they said there was evidence of iron overload but no damage....they never really explained that..but hopefully that's the end of it. Lft readings have always been fine, and there's been no other issues with the liver. I went to the Doc a year ago with a painful hand...I'm so glad the Doc was on the ball and decided to do a ferritin test just based on a sore hand! Test came back at 2000. Few weeks later I'd started the venesection treatment. Year later, I'm slowly coming to the end of them. Hand pain has subsided, but still have the classic iron fist now! My first few months of treatment used to leave me very tired for a day or two after...now. it's all going well. I've changed my diet in some ways. Hardly any red meat now. Plenty of milk and tea with meals. Take a few supplements like calcium, green tea extract, turmeric, and IP6 which is supposed to be pretty amazing. Not cures of course, but all help prevent iron absorption and good powerful anti oxidants. IP6 is a natural iron chelator. So, that's my story in a nut shell.
My original point was to definitely join the Haemochromatosis Society..they are a great support, and as Ruth said, you get s really useful handbook, list of contacts etc, helpline.
All the best..
Mike.
Hi Mike,
Good to hear that you are almost down to your goal. Wow, your GP sounds amazing being able to diagnose your problem so promptly. I, too, have the "iron fist". It began about 10 years ago but I had no idea that it was related to HH. I had never even heard of HH. When I told 2 liver specialists about all my HH symptoms, on 2 separate occasions, they said the hand pain was "just a bit of general arthritis". Are they really that ignorant that they dismiss this very specific to HH pain as irrelevant to an iron overload problem?!
I don't eat any red meat so where my iron is coming from, I have no idea. (Well, my body is making it all, but try convincing the medics.) I have been almost vegan for 30 years so I only eat non haem iron which isn't really absorbed. (Unless you have HH!)
I am taking quite a few supplements as well, but I am careful as everything goes through the liver and I'm scared to stress it out any further. I haven't heard of IP6 but I will look into it. Thanks for the advice.
Take care and all the best,
Ruth
Hi Ruth. Lovely to hear from you. I was lucky with my GP, as a good friend of his has HH, so I think he was quite on the ball...lucky for me! Have you always been vegan, or only since diagnosis? I don't think I could change my diet anymore...I'm doing well now I hope....lots of tinned salmon and sardines, walnuts, all things I've heard prevent iron absorption...loads of eggs now. I don't drink in the week, but like to have a few beers at the weekend. Sometimes enjoy some red wine now..all the tannins...but don't drink alcohol with food...another change I've made. As I say, only at a weekend. I want some sort of balance where I can still enjoy life...but look after myself as well. I'm so thankful that my only symptom was the iron fist, despite having ferritin level of 2000! But, have been told by venesection team, that they regularly see people with levels over 4 and 5000!! Are you in maintenance yet, and if so, how often do you go...especially with your vegan diet?
Good to hear from you..
Take care...
Mike.
Hi Mike,
I have just been looking at the IP 6 you mentioned in your last post. I think I shall order some, so thanks for the tip.
Nah, I was only diagnosed 3 months ago and I have been almost vegan for 30 years. I have only recently begun to eat eggs occasionally, but I DO eat oily fish, for the Omegas contained in them.
I have never really liked a drink. Just don't like the taste of alcohol. If it was mixed with fruit juice like pineapple in a pina colada for instance, I would drink it, but I might just as well then leave out the alcohol and just have the pineapple juice.
I wish I was in maintenance....am still fighting my GP and liver specialist who say I do not have an iron overload problem and won't even consider refering me for venesection. When I get the results of my nuclear heart scan which I am having in July, then I will know if the episode I had was angina or not, and if it wasn't, then I might be able to donate blood. They tend not to let angina suffers donate at blood banks.
Yeah, as you say, one needs some sort of balance where one can still enjoy life....few beers at the weekend and odd glass of wine. Wth my frugal lifestyle over the past decades, to suddenly learn that my liver is pretty much shot to pieces and that I am type 2 diabetic, I also have metabolic syndrome.....high blood pressure and cholesterol....why? All my life, I have been respectful of my body ( my body is a temple, maaan )and now I have all this stuff wrong with me and the medics are still saying it has nothing to do with iron overload. I despair.
But glad you are doing OK. Not far to go from 113. Yayy!
Stay well,
take care
Ruth
Hi Ruth. No wonder you despair!! Someone must be able to tell you what's going on?! What's wrong with them all? Why can't they just give the ok for some venesection treatment? What harm can it do....apart from maybe help your symptoms! Man, that would all drive me insane....banging your head against a brick wall! I heard of a couple who went sailing round the world. The husbands ferritin was nearly 3000! They weren't going to cancel their trip after he was diagnosed, so she learned how to do the venesections. They ordered enough equipment for a years worth of weekly venesections. So, she treated her husband. Makes you just want to treat yourself sometimes seeing as some medics just don't seem to listen. I really hope you get somewhere fast with all this, and will be good to hear of your progress. Take care...and some good luck soon! Mike.
Hi Ruth,
please don't worry about venting I completely understand
as I feel exactly the same as you do. Yes I do get insomnia and it's horrible I'm exhausted but it's like the switch for sleep just doesn't work!! I hate it! My thyroid is damaged and am now on medication and have the Iron fist plus blood pressure and thrombosis but am pale skinned so I get what you mean about bronze skin, terrifying that they only will recognise such serious end stage damage.
Keep fighting my love and thanks for the advice.
great big warm fuzzy hugs.
Hi Ruth,
In theory, being homozygous for H63D won't cause iron overload, at least not all by itself. It will contribute to iron overload if you have another genetic variant that also affects iron metabolism.
One tricky thing about ferritin is that there are two reasons for it to go up above normal: one is iron overload, and the other is inflammation. (In medspeak, ferritin is an "acute phase reactant" - it goes up when there is inflammation in the body.)
One test commonly used to rule out inflammation is the C-reactive protein. If your C-reactive protein is normal, inflammation is not the reason for an elevated ferritin.
If your C-reactive protein is above normal, then something else other than iron excess is going on and your doctors will want to investigate to find out what that something else is.
In other words, if your doctor says, "I don't think that excess iron explains what's happening to you," consider an answer along the lines of, "Okay, doc, what are the other possible causes and how can we find out which are the one(s) affecting me?"
I hope some of this might be helpful -
My Ferritin was around 2000 with a saturation of about 45 although it does spike into the 70's. I'm also homozygous H63D and they kept telling me there must be something else going on because H63D's are not supposed to load iron. Took a liver biopsy showing NASH and 3+ iron deposition and a brain MRI showing microvascular disease with iron depsition and ultrasounds of the joints showing psuedogout arthritic deposits and a EKG showing atrial tachycardia.
All of that in someone who therotically should not have overload.
Most MD'd know very little about the C282Y variant of HH and next to nothing about H63D HH. You need to find a MD who will do venesections as soon as possible, maybe only 100 or 125 ml's at a time given your agina. I would be very very hesitant to try IDE or any chleating agent without medical supervision.
In my case I started feeling better as soon as they started the blood draw. Good luck
Hi
Thank you so much for speaking out. So little is known about this thing we all have in common. Without your input we are at the mercy of so called professionals!! Thank you
Hi Mike,
Yeah, it is driving me nuts. I'm not going to just give up though. That couple on the boat trip, how brilliant! Believe me, I have considered trying to do venesection myself.
Thanks for the good wishes, it all helps to know that we aren't alone.
Take care and stay well ,
Ruth
Hi Gillian,
Thanks for replying. I think that is part of the problem with me, about the H63D not typically causing iron overload and that the medics have grasped onto this and are using it as an excuse to do nothing and save their budgets. You are not actually a person, you just become a blood test result and anything which deviates from the norm, is ignored.
I have another appointment with my GP tomorrow so I will try your suggestion. Thankyou,
Take care,
Ruth
Hi Jwrhn,
Thankyou for replying. Yeah, is seems pretty clear that the medics I have come across know less about HH than I do. The liver doc has offered me a biopsy. For loads of reasons I'm not keen. I am going to ask if I can have a Ferriscan ....I know I won't get this on the NHS, but at least it will prove one way or another, if I AM loading iron. And if I am, then I can prove that despite having relatively low ferririn, I AM in need of treatment. And that, exceptions to the general rule DO occur.
I am due to have an EKG on June 10th. I have had 3 ECGs but all of them were fine. Hopefully the EKG will show something because I have been having palpitations and fluttery heartbeats for years.(Though low T3 connected to my hypothyroidism can also cause this so it may not be related.)
Thankgoodness your docs were prepared to be more proactive in finding out all your problems, than mine seem to be.
Good to hear that you finally got answers and that you are doing better . Thankyou for the good luck wishes. Think I'm gonna need 'em!
Take care,
Ruth
Hi Mary,
Bless you.
It does so help to know that I am not alone.
If only the so called professionals were not so b***y arrogant and actually listened to their patients instead of treating us like ignorant automatons! Grrrrrr!!!
Take care,
Ruth
Hi Helen,
Thankyou for replying.
Yeah, I think it is ridiculous too. Donating to a blood bank isn't really an option at the moment because I had a suspected angina attack a couple of months ago and until I get the results of a nuclear heart scan which I am due to have in July, they don't let people with angina donate at blood banks.
Seeing a different doctor also not really an option, unfortunately. I live in the middle of nowhere, there are only 2 doctors at the practice and the other one is even worse! I first saw the other one last September and she told me that there was absolutely no problem with a raised ferritin level (it was 249 back then) and I had nothing to worry about.
Sorry to sound so negative. I feel like I am beating my head against a brick wall. I won't give up. I am trying to get a refferal for a Ferriscan which will show if I AM loading iron, and if I am, then I shall be in a better position to prove that I do need venesection, despite them thinkin that with a ferritin level of 277 I can't possibly be loading iron.
Have you had negative experiences with your hypothyroidism? I have. Some people do well on thyroxine but I wasn't one of them so had to source my own solution because the medics wouldn't listen.
Glad to hear that you did eventually get your phlebotomies, though sorry that they weren't soon enough.
I just wish the medics would listen instead of treating patients like idiots.
Best regards,
Ruth