Newly diagnosed with HH
Posted , 6 users are following.
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.
2 likes, 31 replies
mike80628 ruth51315
Posted
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.
ruth51315 mike80628
Posted
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
Helen_BA ruth51315
Posted
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ruth51315 Helen_BA
Posted
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
mary92507 ruth51315
Posted
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
ruth51315 mary92507
Posted
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
mary92507 ruth51315
Posted
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.
ruth51315 mary92507
Posted
Isn't it so frustrating that the medics don't listen!
If ever you want an ear to listen, a sympathetic fellow sufferer to vent on too, please feel free. We seem to have a lot in common, bad sadly, none of it good.
I will definitely keep fighting. And if I do suddenly drop dead from a heart attack (it does happen with HH) my partner is under strict instructions from me to tell the coroner to look specifically for iron overload and if it is found, to say "I TOLD you so to all the medics who have refused to treat me and to sue the pants off the NHS. LOL.
You take care care as much as you can,
and great big fuzzy hugs back ( I LOVE that !! )
Hope you manage to get some sleep tonight,
Ruth
mike80628 ruth51315
Posted
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.
ruth51315 mike80628
Posted
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
mike80628 ruth51315
Posted
Good to hear from you..
Take care...
Mike.
ruth51315 mike80628
Posted
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
mike80628 ruth51315
Posted
ruth51315 mike80628
Posted
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
GillianA ruth51315
Posted
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 -
ruth51315 GillianA
Posted
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
GillianA ruth51315
Posted
I hope that your appointment tomorrow will result in your doctor starting to look into possible cause(s) of your problems!
It may help to ask for copies of all the tests you have had done so far so that you can keep track of what has been checked when and what the results are. For example, it will be very helpful to know if your C-reactive protein (a test for inflammation) has been checked already and if it has, what the results were.
Of course, anyone can have both inflammation AND iron metabolism problems at the same time, both of which put ferritin up, and both of which can cause tissue damage. So if it turns out you have inflammation, your doctor will want to find and fix the causes of the inflammation. Then, if your ferritin doesn’t come back down to normal once the inflammation is fixed, you know there is something funny going on with how your body handles iron. Or, if your ferritin keeps going up even though your inflammation is not changing (or is getting better), that would also suggest a problem with iron handling.
Best of luck tomorrow!
Gillian
PS Full disclosure here - I’m a 63 year old female H63D homozygote – one who had very heavy periods until 2004, when I was 52 years old. At that point, my ferritin was 387 ug/L. Five years later, my ferritin was 858 ug/L – and my C-reactive protein was also high, at 4.7 mg/L. I then discovered that I was gluten-intolerant and went gluten-free, whereupon my C-reactive protein dropped to a normal 1.6 mg/L – but my ferritin went up to 1107 ug/L. Eight years later, my ferritin was up to 1438 ug/L. An astute rheumatologist suggested that I look into iron overload disorders, but it took another year before I was able to find a doctor who would order phlebotomy for me. After de-ironing, my C-reactive protein is still normal and my ferritin is currently 47 ug/L; my rheumatologist says that in his experience, after de-ironing people with genetic iron overload do best maintaining ferritin between 20-50 ug/L, and closer to 20 is better. My response to phlebotomy is consistent with ferroportin loss-of-function disease (slow recovery of hemoglobin after phlebotomy, requiring increasing time between phlebotomies to allow the hemoglobin to come back up) but private genetic testing in the US did not show any of the currently recognized mutations that affect ferroportin function.
PPS
A paper that might be helpful is Iron Overload in Human Disease, by RE Fleming and P Ponka, published in the New England Journal of Medicine (2012 Jan 26;366(4):348-59.). If you google it, you should be able to get full-text online as a pdf. If not, let me know and I’ll post the link. (Posts with links have to be vetted, so it takes a while for them to show up.)
The part of this paper I found particularly interesting was Figure 3 B, which says how to investigate high ferritin – it says:
If the ferritin level is high
And the transferrin saturation is normal or low,
Then rule out inflammation, the metabolic syndrome, cell necrosis, and alcohol abuse.
(when these are either ruled out or fixed, if ferritin is still high with normal or low transferrin saturation, then)
consider aceruloplasminemia, ferroportin loss-of-function, and hyperferritinemia or cataract)
ruth51315 GillianA
Posted
Thankyou so much for taking the time to share all this with me. One of the blood tests the liver doc requested was a CRP test. I'm guessing this is the C reactive protein test. My result was 3 mg/L (lab range 0 - 10 ) so if I'm reading it correctly that seems to show inflammation isn't a problem.
I will definitely google the article you have cited, but I haven't the time right this minute.
Like you I used to have heavy periods, but mine began to peter out when I was 37, around the same time as my hair started falling out. I didn't know then, that these are symptoms of iron overload. By the age of 43 my menopause was finished and my hair was still falling out. GP sent me to an endocrinologist who diagnosed hypothyroidism , put me on levothyroxine and said my hair would grow back in 6 to 12 months. It didn't. Again, I didn't lnow back then, that hypothyroidism is also a symptom of iron problems. Ten years ago, my "iron fist" hand pain began. I just put this down to general arthritis and didn't even bother going to the doc . I mean, why bother, they are usually pretty disinterested! Then I started getting palpitations. This can be due to low T3 connected to the thyroid so I didn't connect it with HH. I still hadn't heard of HH. Last year I began to feel really awful with chronic fatigue, dizziness, blurred vision, worsening palpitations and breathlessness. I eventually went to the GP who diagnosed high blood pressure, high cholesterol and type 2 diabetes. More possible symptoms of iron overload as it reaches the pancreas, though I still hadn't heard of HH at this point. My liver function tests came back de-ranged which was when the doc mentioned HH and referred me to the liver specialist. Then I had the suspected angina attack. I think on a list I have seen of possible iron overload symptoms, I have about 95% of them.
Not looking forward to seeing the GP today but needs must. I know he will be as evasive as ever but I'm not going to give up and just go away.
I'm glad that your astute rheumatologist picked up that you had iron issues. Even when I hand all the info to the medics I have seen, they deny that iron is my problem. No, doc, so what IS then??
I have to get up and at 'em right now, but thankyou for all the info.
Stay well, stay safe,
Ruth
mike80628 ruth51315
Posted
Hope you can finally get somewhere with them!
Rooting for you!
Mike.
ruth51315 mike80628
Posted
You are such a tonic!
They haven't agreed to venesections but they HAVE agreed to let me have a Ferriscan which will tell us if my liver is loaded with iron. If it is, they will have to believe I should be venesected. ( Did I just invent that word?)
So, I feel like I did get somewhere yeaterday. Yayyy!!
Thankyou for keeping in touch and caring.
Hugs
Ruth
ruth51315 GillianA
Posted
At least with the scan, it will show one way or another whether my liver is loaded with iron. and whether or not venesection should be implemented.
Thankyou for all your help and advice.
Wishing you well for the future and your own journey with HH,
hugs
Ruth
mike80628 ruth51315
Posted
My level was 86 on Wednesday. I was over the moon. A year ago it was 2000...now I'm finally under a 100! Just a couple more now. My first real blood donation is in July...they'll finally be able to use my blood to help someone else instead of binning it every week. That will be such a great feeling...helping someone else while they're helping me.
Well, hope the ferriscan happens soon...let us know the results.
All the best..thoughts and prayers...Mike.
ruth51315 mike80628
Posted
am so pleased that you have nearly reached your goal...and as you say, that finally your blood will not be wasted after July.
I will keep in touch and let you know about the Ferriscan when it happens.
Thankyou for caring,
hugs
Ruth
GillianA ruth51315
Posted
It is wonderful news that your doctor is ordering a ferriscan – good for you and good for your doctor too!
The ferriscan should show if your tissues are iron overloaded – and assuming that your tissues have accumulated enough iron to show, by determining exactly where the iron is accumulating the scan might even help tell what *type* of iron overload you have. Classic HFE hemochromatosis (and the less common ferroportin gain-of-function disease) cause iron overload in the liver but not in the spleen or bone marrow, whereas ferroportin-loss of function disease causes extra iron to accumulate in the spleen and bone marrow as well as in the liver. There is an article that you should be able to find online that shows pictures of scans for iron: Pietrangelo A. The ferroportin disease. Clinical Liver Disease 3.5 (2014): 98-100. If you have trouble finding the article online, let me know and I’ll post or send you the link.
This is a very good start on figuring out exactly what’s wrong and fixing it . . . .
Cheers, Gillian
PS In my case, I was not able to persuade my hematologist to order an MRI for iron until I had already had 23 phlebotomies over 18 months to remove about 3 grams of iron, by which time my ferritin was within normal range, although not to the target of below 50 ug/L. The first MRI appointment I could get was 8 months away, but fortunately there was a cancellation and the MRI was done only two months after it was ordered. At that point, my ferritin was somewhere between 39-84 ug/L. After the MRI was done, my hematologist had to push for about two months to get the radiologist to report on iron levels – and, as one would expect from my ferritin levels around the time the MRI was done, no excess tissue iron was shown. It was good to know that the de-ironing had worked, but I do wish I could have had the MRI earlier when I was still iron overloaded to find out how the excess iron was distributed.
ruth51315 GillianA
Posted
Thankyou for replying and for all the information.
My doctor wouldn't refer me for the Ferriscan under the NHS so I am having to pay for it. I have just started getting my works pension after retiring and I'd like to live long enough to enjoy it, so I don't resent having to pay. And as you say, at least I will get the scan quicker, and also the result. ( I once had to have an MRI on my spine for a slipped disc. The results took 6 weeks to come back, by which time the disc fragments which were pressing on my nerves had all shifted again, so the MRI was useless and the money the NHS spent on it was wasted.) I think my medics don't believe that I have an iron overload problem but as you said in a previous mail, if I don't, then what IS causing all my symptoms. At least with the scan, it will prove it, one way or t'other.
It never ceases to amaze me, how different the treatment offered can be, depending upon one's GP, where you live etc etc. The services offered by the NHS seem so random with no consistent guidelines and it's the luck of the draw what you get offered and how tenacious ones GP is prepared to be.
Glad that your ferritin levels are now more normal but sorry about the fight regarding the MRI. If the medics had considered venesection in my case, I wouldn't be having to prove to them that I need it and that I am storing iron by having the Ferriscan. All so random.
Thankyou again for all the very detailed info and for the continued support,
hugs
Ruth