Ferroportin disease - haemochromatosis type 4, can anyone offer any help?

Posted , 10 users are following.

I was diagnosed with Ferroportin disease three years ago.  My ferritin was approx 5000 and my symptoms were non specific at the time.  Generally felt below par.

I have been having fortnightly venesections for the past three years (ferroportin disease does not respond well to phlebotomy) and went to three weekly for a short period as I became anaemic.  My ferritin is now at 500 and I have recently began to experience joint pain and painful muscles.  I was expecting to feel better as my ferritin comes down.

Does anyone else have this problem and what should I expect when my ferritin is below 50?

 

4 likes, 28 replies

28 Replies

Prev
  • Posted

    Hi Marie,

    i have aves only just found your discussion as I have been looking for more info re ferroportin disease.

    i was diagnosed approx 9 years ago when a blood test found that my ferritin level was in excess of 1500. My mum was then tested and hers was double mine. We both had fortnightly venesections for 2-3 years and slowly it began to come down. I then had to stop as I became pregnant. After I had given birth remarkably my levels were around 450 which was amazing as I expected it to be much higher. Neither my mum nor I had any real symptoms to speak of and it turns out my auntie (mums sister) also has increased levels but has had no treatment.

    i am now pregnant again and my consultant has re checked my levels and they are back up to 900 but it is 5 years since last checked. Sadly I lost my mum to cancer last August and it has been interesting reading that cancer can have an association with increased ferritin so perhaps that might account for mums higher levels or maybe it's just that ferritin levels increase with age and lack of menstruation.

    its fascinating to hear other people's stories as when we were diagnosed we we told it was very rare with little understanding but evidently there are more of us than first thought.

    hope you are feeling better and have the joint and muscle aches under control. Let me know how you are getting on.

    nikki

    • Posted

      Hi Nikki

      I am feeling better, thank you, although I still have some pain in my hands.

      I have been to see a rheumatologist who took some x-rays and some blood to see if I had any RA or signs that ferroportin disease was the cause of the pain.  The x-rays were clear, the blood tests were clear apart from the ANA being slightly positive.  I had further blood tests and these came out fine.

      My painful thumb turned into trigger thumb and has only just released by itself without having to have a steroid injection.  I have been attending occupational therapy for my hands where hot wax has been poured onto them (feels lovely) and then my hands wrapped in towels for ten minutes.  Once the hands are nice and warm I then stretch the tendons slowly and hold the stretch.  I have been doing this for weeks and although the therapy helps at the time it is not improving the hands.  The next step is ultrasound.  I shall see how that works.

      I am pleased that it is not the ferroportin disease that has caused the pain in my hands.  It appears that I have strained my tendons and it is taking a long time to heal.

      My ferritin level target has been changed to 200, which I have now reached and am now in maintenance phase.  The last blood test showed ferritin of 233 and that was at the end of January.  My next blood test is tomorrow and I am expecting it to be in the 260 range.  I am trying to work out how often I need to have a venesection to keep it at 200.  It is looking like it will be every 6 to 8 weeks.

      Like yourself, I didn't have any real symptoms when diagnosed and now that I am down to 200 I don't feel any different.

      What does interest me, however, is that although my ferritin level at diagnosis was 5000 and the iron overload in my liver was at 14, there does not seem to be any real damage to the organ.  Having read other posts of people with classic haemochromatosis when their ferritin levels have been relatively low compared with mine, they have experienced severe liver damage.

      ClayF1965 made a post on my thread, above, which explained the difference between ferroportin disease and HH and suggested a couple of links for further reading.

      I am surprised that your doctor/consultant has not been keeping an eye on your ferritin levels.  Going five years is quite a long time.  My ferritin is being tested monthly.

      I hope all goes well with your pregnancy.

      It is good to be in contact with a fellow ferroportin patient. 

      Best wishes

      Marie

       

    • Posted

      Hi Marie,

      I have been told that I probably have ferroportin-loss-of-function disease:  my ferritin was 1485 ug/L at its highest with normal transferrin saturation.  I developed low serum iron and low hemoglobin with phlebotomy even when my ferritin was still high, with the result that I am now getting bled every 4-5 weeks to let my hemoglobin get back up high enough that I can be bled again.  However, I haven't been diagnosed yet, as the definitive testing required for ferroportin disease isn't available in Canada.

      That said . . . I'm told that no matter what kind of iron overload I have, I should get my ferritin down to 50 ug/L.

      And, from the reading I've done on ferroportin disease, getting ferritin down to 50 ug/L doesn't mean that the excess iron is out of the iron overloaded tissues, because in ferroportin loss-of-function disease, the poor crippled ferroportin takes ages to get the iron out of the iron-overloaded cells into the blood stream where it (the iron) can be used to make new red blood cells.  Therefore, in ferroportin loss-of-function disease it could take a while of continued phlebotomy after reaching a ferritin 50 ug/L – maybe quite a while, who knows? - until de-ironing is complete for all affected tissues.

      To complicate matters further, in ferroportin loss-of-function disease, it appears that different tissues de-iron at different rates.  In the 2006 paper "Magnetic resonance imaging to identify classic and non-classic forms of ferroportin disease," Dr. Pietrangelo and colleagues point out that when people with ferroportin loss-of-function disease (which he calls the "classic form" of ferroportin disease) are treated with phlebotomy, even after the serum ferritin is normal and liver iron content is low, the spleen and the spine will still be iron overloaded.  (It doesn’t look as though anyone has looked at iron overloading of other tissues such as the heart, brain, etc.  The liver-spleen-spine comparison can be made on MRI abdominal imaging, because the liver, spleen, and spine all show in one cross-sectional image of the abdomen.)

      To me, this raises the really interesting question of how can someone with ferroportin loss-of-function disease know when all the body tissues that were iron overloaded have been successfully deironed if you can’t go by the ferritin level?  I’m guessing that a combination of ferritin between (say) 35 – 50 ug/L and all symptoms gone would be a reasonably good indicator of successful de-ironing.  But suppose symptoms *don’t* all go away – is it because some tissues still have excess iron, or is it because the iron is indeed gone but something else is going on apart from iron overload?  As far as I can see so far, it looks as though MRI would be the best non-invasive way to tell . . . .

    • Posted

      Hi Gillian, I don't know much about ferroportin disease except from your descriptions.  They can do MRIs of the heart now and of course, always able to do MRI of brain.  I have seen pictures of MRI scans showing iron deposits.

      The hypothalamus does not have a blood brain barrier because it allows blood in to 'test' it, and from there it deposits in the pituitary gland.  I have read of cerebella ataxia caused by iron overload.  Excess alcohol can also do it.  An uncle died from it, and it could have been caused by either or both.

      Research does not seem to be able to 'prove' brain damage by iron overload by replicating the problem in mice - however, autopsies have 'proven' it.

      Medications and other conditions can breech the blood brain barrier, particularly those which dilate blood vessels.

      What about chelation for you?  They use that for Thallasemia patients who end up with iron overload but they don't have high TS%.  Otherwise I can't see how you can get your ferritin iron down to <50, as your body cannot take repeated venesections very well.  and of course, they say not to reduce foods with iron in it.

      how is your body absorbing iron - it must be different to the hepcidin factor of hh?  do you have a fatty liver?  if so, eliminate all sugars and starches which cause fatty liver and this will reduce your capacity to absorb too much iron.  i have witnessed with happen with support group members who were only carriers of hh but had high ferritin iron levels (not ts%) and they had fatty livers.  venesections were not the answer for them.  once they eliminated all sugars and starches in their diet, their ferritin iron levels dropped by the hundreds.

      looking forward to your response. as="" your="" body="" cannot="" take="" repeated="" venesections="" very="" well.=""  and="" of="" course,="" they="" say="" not="" to="" reduce="" foods="" with="" iron="" in="" it.="" how="" is="" your="" body="" absorbing="" iron="" -="" it="" must="" be="" different="" to="" the="" hepcidin="" factor="" of="" hh?=""  do="" you="" have="" a="" fatty="" liver?=""  if="" so,="" eliminate="" all="" sugars="" and="" starches="" which="" cause="" fatty="" liver="" and="" this="" will="" reduce="" your="" capacity="" to="" absorb="" too="" much="" iron.=""  i="" have="" witnessed="" with="" happen="" with="" support="" group="" members="" who="" were="" only="" carriers="" of="" hh="" but="" had="" high="" ferritin="" iron="" levels="" (not="" ts%)="" and="" they="" had="" fatty="" livers.=""  venesections="" were="" not="" the="" answer="" for="" them.=""  once="" they="" eliminated="" all="" sugars="" and="" starches="" in="" their="" diet,="" their="" ferritin="" iron="" levels="" dropped="" by="" the="" hundreds.="" looking="" forward="" to="" your="">

      how is your body absorbing iron - it must be different to the hepcidin factor of hh?  do you have a fatty liver?  if so, eliminate all sugars and starches which cause fatty liver and this will reduce your capacity to absorb too much iron.  i have witnessed with happen with support group members who were only carriers of hh but had high ferritin iron levels (not ts%) and they had fatty livers.  venesections were not the answer for them.  once they eliminated all sugars and starches in their diet, their ferritin iron levels dropped by the hundreds.

      looking forward to your response.>

    • Posted

      Hi Sheryl,

      Quite right about MRI’s of the heart, brain, and basically any body part – the problem is trying to get an MRI for iron in Canada.  There is information published about brain damage from iron overload in the group of iron overload conditions called Neurodegeneration with Brain Iron Accumulation (NBIA).  For example, there’s a nice 2012 review by H.M. Schipper, “Neurodegeneration with brain iron accumulation — Clinical syndromes and neuroimaging” in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease Volume 1822, Issue 3, March 2012, Pages 350–360)  I haven’t found anything yet on brain iron overload in ferroportin loss-of-function disease, though.

      The basic problem in ferroportin loss-of-function disease, as I understand it, is that ferroportin doesn’t work very well – and ferroportin is the only thing that exports iron out of cells into the bloodstream.  So, iron isn’t absorbed very well with ferroportin-LOF because the iron gets absorbed into the cells lining the gut just fine, but then those cells don’t export the iron they take up into the bloodstream very well, so the body doesn’t get that much of it. 

      If poor absorption of iron were the only problem, it wouldn’t be a big deal, given that humans (that is, humans with normal ferroportin function) absorb about 1-2 mg of iron a day, and someone who didn’t absorb it all that well could at least in theory just take extra iron orally, or, worst case scenario, get iron injections.  (It’s interesting that ferroportin LOF may also impair absorption of some other minerals, including maybe zinc, cobalt, and manganese - early days yet for this, the only research I’ve found so far involves test tube studies and mice, not humans.)

       

      However, the big problem with ferroportin LOF is that we recycle the iron in old used-up red blood cells.  This is a lot of iron, about 25 mg a day.   Old red cells get taken up by the macrophages for recycling and are broken down inside the macrophages and the iron that the red blood cells contained is freed up inside the macrophages.  And then because ferroportin isn’t working very well, it takes the macrophages a long time to export the iron that they’ve reclaimed back into the blood stream.  The result is that the macrophages get overstuffed with iron.  If you bleed someone with ferroportin LOF, they may actually get low blood iron and anemia because of how slowly the macrophages export their recycled iron.  However, if you wait, because the ferroportin does work some, just not very fast, the macrophages will be able to slowly put the iron back out into the blood stream so the body can make new red blood cells.   Therefore, the trick is to wait long enough between phlebotomies for the poor old macrophages to slowly export enough of their extra iron so that the body can make enough red blood cells to allow another phlebotomy.  Therefore, at least in theory, given patience and persistence, phlebotomy should work to get the extra iron out of the tissues in ferroportin LOF.

      I did do some looking into chelation, wondering about how the various chelating agents work.  The ones I’ve checked out so far seem to work by freeing up iron within the cells – which would be helpful in cells that have normally working ferroportin, but I’m not sure how helpful it would be in cells with impaired ferroportin function – how is freeing iron up inside the cell going to help it get out of the cell when it still has to get out via ferroportin, which isn’t working very well?  I admit that I haven’t done that much digging on chelation, because phlebotomy is steadily and surely bringing my ferritin down and I’ve stopped getting worse since I started phlebotomy.  (The chelating agents also don’t sound like much fun to take.)

      You’re right about hepcidin – in ferroportin LOF, apparently despite the excess iron in the cells and the low serum iron outside of the cells, hepcidin is usually high – although it does drop with phlebotomy.  (I’m going by F. Wolff and colleagues’ 2014 paper, “Monitoring of hepcidin levels in a patient with G80S-linked ferroportin disease undergoing iron depletion by phlebotomy.”)

      I don’t have a fatty liver, and my lipids, including my triglycerides, are splendid.  My liver enzymes are completely normal, and stayed that way even during times when my rheumatologist was trying me on a couple of (somewhat liver-unfriendly) medications for what we thought at the time was some sort of autoimmune arthritis.  I have no inflammation, no metabolic syndrome, no diabetes, no cancer, and my ceruloplasmin levels are normal.  I do have liver cysts on ultrasound, exact nature yet to be diagnosed, but without any evidence of inflammation and completely normal liver tissue around them.  My refined starch / sugar intake is quite low, partly because I’m watching my weight, and partly because I don’t have time or energy to bake very often and – given that I react to gluten, corn, soy, nightshades including potato, etc. etc. – the only baked goods that I can eat without reacting are the ones I make myself (which is probably just as well!)  Now that you mention starches and sugars, I looked back in my charting to 2009 when I cut out carbs containing gluten, corn, potato, etc. – and my ferritin just kept right on going up.  So in my case, I don’t think starches/sugars are the problem.

      As far as I’ve been able to determine, ferroportin loss of function is the best explanation for my iron overload – but I’m still trying to find a way to get that confirmed, or ruled out.

      Thank you for your concern and interest – I really appreciate it!

    • Posted

      Hi Gillian

      Sorry for my late reply, I only saw your posting via Sheryl's response to yours.

      Is ferroportin loss-of-function disease the same as ferroportin disease?

      From what you have posted it sounds the same as my diagnosis of ferroportin disease.  (Perhaps it is given a different name in Canada).

      I was started on a phlebotomy program where I was venesected once a month because of the problem of becoming anaemic.  After the first month my hb had recovered and I was put on a fortnightly program.  I started in September 2011 and by May 2012 my hb had dropped from 12.0 to 10.8 at which point I was starting to feel unwell.  My venesections were set to every three weeks and my hb recovered and I settled down for quite a while but then my ferritin plateaued and it was not going down.  I went back to fortnightly and my hb did not go down as before.  I think my body had got used to being bled on a regular basis.  My ferritin level at the start was 5000 and now after three and a half years I have reached my target ferritin of 200.

      The ferritin has been set at 200 because it is felt that ferroportin patients may not respond that well to being bled to a level of 50.  I feel fine at 200 and we are now monitoring how quickly I am loading.  It has only been approximately three months since I reached my target of 200 and my last blood test gave a result of 213.

      The MRI scan that you are talking about is called a 'ferriscan'.  It can measure the amount of iron in the organs.  I have been monitored in this way and is a good measure of how the iron is reducing as you have more venesections.  My iron loading in the liver was at 13.7mg/g dry weight and I believe the normal level is about 2mg/kg dry weight. 

      Fortunately, I have no liver damage apart from some slight fibrosis.

      To give you an idea how quickly/slowly the iron was coming out of my liver, the first ferriscan was done in autumn 2011 with the above result, the next was done in spring of 2013 and the result was 8.6 mg/g dry weight.  My ferritin was 1149.  By that time I had had 31 venesections of 350ml, not the normal amount taken due to the possibility of becoming anaemic.  My next ferriscan was spring 2014 and the result was 4.1mg/g dried weight with a ferritin of 582.  I had had 53 venesections at this point.  I have not had a ferriscan this spring but will have one in 2016.

      At the same time as having a ferriscan on my liver, I had one for my heart as well which is called a T2*.  This came back normal.

      I have been told that the loading of iron starts in the liver then the heart, pancreas etc.  I did ask when first diagnosed whether the iron loaded in the brain and was told that it does but it is quite rare to do so.  My journey with ferroportin started with an abnormal MRI scan for something totally unrelated.  The radiographer found that I had an infiltratiion of iron in my bones.  This started the journey of countless tests etc., etc.

      To get the final diagnosis, my blood was sent for genetic testing to test for ferroportin and hepcidin genetic mutations.  This confirmed that I had ferroportin disease.

      To give you peace of mind it would be good if you could get a ferriscan done and then you will know to what extent you have loaded.  I know that when I found out my ferritin was 5000 I was very worried indeed about having liver damage.

      I hope my posting has been helpful.

      Please keep in touch.  There are so few of us with ferroportin disease.

      Best wishes

      Marie

    • Posted

      Gillian, thanks so much for the heads up on Schippers review.  It is very informative.  I have not finished reading it yet, but I am pleased to see that there is mention of possible chelators for the brain which I am very interested in, having had my brain exposed unnecessarily to excess iron from beta blockers (because of the affects of HH on my heart) which dilated my blood vessels also leading to my brain.  I tell you, when you get iron overload in the brain, you know it.  However, it is too difficult to get a dr to take it on board.  One because they don't believe it possible, and two, because I lost articulation, focus and concentration, among other things, i.e. the ability to describe it to my dr.

      As I mentioned before (I think), the hypothalamus is definitely among those organs listed as being affected by iron overload.

      I now (not because of the above) search for research using iron overload instead of hemochromatosis because I find more.  Using the word hemochromatosis is too limiting.  Iron overload is iron overload no matter the cause so don't overlook it because it does not mention being caused specifically by ferroportin LOF.

      Yes, chelators can have their problems.  At a conference I attended last year, a researcher spoke of two different types of chelator.  One for deposits in the heart and one for deposits in the liver.  But first, it needs to be proven where you have those deposits to get the right one.  Previously they just used xJade (I think) on all.  Schippen mentions deforexin (sp?) for the brain which is also one of those for the above (forget which).  I had to pay personally for my MRI of the heart, the T2* that Marie mentions.  They did the liver as well.  I still have problems with my heart although it was not proven that I now had deposits in my heart.  However, given all the symptoms I had before I started on venes and every time my Fe level does go up, it was there before de-ironing, and deposits there on occasions.  And unfortunately I was called back in for a redo, the timing was so bad - the day after I had a venesection.  I can bet they will find scarring too on autopsy.

      However, it is dangerous to chelate from the brain if not proven as well, as too little iron in the brain will cause the same damage.

      Does drinking tea, dairy, red wine with meals help reduce the uptake of iron for ferroportin as well?  I am not sure it really works for me but I keep doing it in hope.  How can one tell really?  I am sure I have not really grasped your condition - it sounds very complex.

      I suppose there is no assoc/org/support group for your problem either.  It is so good to hear from Marie and her success in ferritin reduction, although over many years.  Your life is not your own anymore, is it?  Well, it is unfortunately, but I think I mean, it takes over your life and not much time for anything else.

      I will be following your interactions with Marie as there is a lot to learn which is indirectly helpful for me too.

      Good luck and best wishes

       

    • Posted

      Hi Marie,

      There are two types of ferroportin disease, sometimes called haemochromatosis type 4A and haemochromatosis type 4B. 

      In type 4A, the more common type of ferroportin disease, the ferroportin doesn’t work very well, with the result that people with type 4A have trouble getting iron out of their cells into their bloodstream.  This means that they don’t absorb iron from food very well and their old-red-blood-cell recycling cells (the macrophages of the reticuloendothelial system) get overloaded with iron reclaimed from old red blood cells.  Type 4A is sometimes called ferroportin loss-of-function disease because ferroportin has lost some of its function.  It’s also called “classic” ferroportin disease.

      In type 4B, the problem is different:  ferroportin works fine, but it doesn’t stop working when hepicidin tells it to, it just keeps on busily shoving iron out of cells into the blood stream.  The result is that people with type 4B absorb iron too well.  They don’t stop absorbing iron even when hepcidin goes up to say, “Stop absorbing iron already!”  and the whole body gets iron overloaded, just as is the case with HFE-type hemochromatosis.  This is sometimes called ferroportin gain-of-function disease, because ferroportin does more functioning than it ought to.

      People with ferroportin loss-of-function disease often get low blood iron and low hemoglobin with phlebotomy, because with ferroportin not working very well to get iron out of cells into the bloodstream, you have to wait a while after a bleed for the disabled ferroportin to move more excess iron slowly out of the iron overloaded cells into the bloodstream.  Because you had trouble with low hemoglobin with phlebotomy every two weeks but not every three weeks, it does sound as though you have the loss-of-function type of ferroportin disease. 

      It’s great that your response to phlebotomy is being monitored by MRI, given that Pietrangelo and colleages said (in their 2006 paper) that in people treated for ferroportin loss-of-function, even when serum ferritin has returned to normal and liver iron content is low, MRI will show remaining appreciable iron accumulation in the spleen and spine.  I’ve been asking for an MRI for iron for over a year now and at my last visit, my hematologist finally agreed to order one.  No word yet on if or when it will actually happen – I hope it will be sometime this year, as it will be very helpful to be able to correlate my ferritin level with how much iron there is or isn’t, at least in my liver, spleen, and spine.  I don’t think I have much hope of getting an MRI to estimate cardiac iron. 

      My ferritin was only 1438 ug/L at its highest – probably because I had really heavy periods – I’d estimate in the 350-400 cc range – which would have helped prevent iron overload until I stopped having periods.  After my 23rd phlebotomy (6.7 L of blood removed for an estimated 3 grams of iron or so), my ferritin came back down to 130 ug/L.  My current plan is to keep on with 350 cc bleeds every 4-5 weeks until my hemoglobin doesn’t come back up to over 11 g/L by 4-5 weeks, then I’ll stretch out the time in between as needed.  My theory is that the time required for hemoglobin to come back up after being bled is an indicator of the remaining degree of iron overload in the tissues; the less iron overload there is in the tissues, the more time it will take ferroportin to shovel iron out of the cells back into the bloodstream.  I figure that as the iron in my cells comes back down into normal range, the time needed in between bleeds will increase into maintenance range of (maybe?) every 3-4 months.  MRI monitoring to measure iron in the tissues would be much more scientific, but I’m still not sure I’m going to be able to get even one MRI, let alone another one, so using hemoglobin recovery time as a proxy measure of tissue iron overload is my fall-back plan.

      Please do bear in mind that I don’t know for sure yet if I have ferroportin loss-of-function disease or not.  I just can’t find any other explanation that fits my situation, so I’m proceeding on the assumption that I do have ferroportin LOF until I can find some way to get genetic testing done.There are very few people in whom ferroportin disease (type A or type B) has been diagnosed – but based on my experience so far, I’d have to say it’s a diagnosis that isn’t really on Canadian medical radar.  This makes me suspect that there may well be more people who have high ferritin from ferroportin disease but who haven’t been diagnosed.

    • Posted

      Hi Sheryl,

      I agree completely about using terms like “iron overload” and “iron toxicity” instead of hemochromatosis when searching.  Or, even just “iron”, as in (for some brain examples)    iron  Parkinsons    or   iron dementia    or   iron Alzheimer’s  .  I like Google Scholar – I turn off the patents and citations, and it lets you specify date ranges and other search criteria.

      My guess is that drinking tea (and coffee, to a lesser extent) and red wine (and cocoa, too I think) should work to reduce iron absorption even in hemochromatosis involving increased iron absorption, because substances in the tea/coffee/wine/cocoa binds up the iron so it can’t get into the cells lining the gut in the first place.  On the other hand, vitamin C and meat (especially red meat) increase the absorption of non-heme iron (iron from plants.)

      I don’t know if I have excess iron in my brain or not, or if it’s just the fatigue, but I really miss having a properly functioning brain.  I can’t do anything that requires quick thinking – I have to plod along and double- and triple-check everything.  I have trouble finding the right word, and worse yet, sometimes use the wrong word and don’t notice.  Fortunately my husband has an excellent sense of humour and is sympathetic, but you are so right that it makes it very difficult to provide complete concise rapid responses to medical questions.  I now put together a cheat sheet that I hand in for any doctor’s appointment, highlighting the questions I want to ask or what I hope to get out of the visit (I try to limit these to 2 or at most 3), my report on what I think the doctor might want to know, then other relevant information.  (For example, I keep a graph tracking my hemoglobin and ferritin over time, showing the ferritin rising, then dropping steadily from the time that I started phlebotomy.)  This helps, but I still end up not providing information that might have been helpful because my brain can’t locate it until an hour or more after the appointment ends.

      My thanks to you and to Marie – it is so helpful to trade ideas with other people dealing with similar challenges.

      Here’s to us all getting better!!

    • Posted

      Hi Gillian

      When I was first diagnosed and because both of my parents have passed on, my sister and I were not sure which side of the family we had inherited the faulty gene.

      With this in mind we contacted our cousins and let them know that they should probably get a blood test done to see if their ferritin was high.  I have family in Canada, Alberta, and they told me that they were all tested and did not have it.  I don't know what tests they had, but in view of your experience (finding it to get an MRI scan and genetic testing) I must contact them and find out to what extent they were tested.

      The symptoms you mention about a foggy brain are not too dissimilar to what I experience.  I have difficulty in finding the right word and quite often lose track of what I am saying.  I am very forgetful these days and have to resort to making a list of the things I must/have to do.  Sometimes when I am talking to someone my conversation just does not flow and I give up with what I am trying to say due to the embarrassment of appearing to be inarticulate. (hope that is the right word).

      The foggy brain could be just a symptom of getting older (I'm in my early fifties) but I am not sure.

      I note that you keep a chart of your ferritin and hb readings.  I have done this also right from the start.  My graph shows that the ferritin readings were all over the place.  I would come down gradually and then shoot right up again and then come down gradually again.  My husband wondered whether it was due to the iron coming out of the organs into the blood stream.   When I mentioned the erractic behaviour shown on my graph, the consultant told me that above 1000 the blood tests for ferritin were not that accurate. It wasn't until the ferritin reached 1000 or less that the results became meaningful. 

      I hope you don't have to wait too long for your MRI.  Please let us know how you get on.

      Best wishes

      Marie

    • Posted

      Hi Gillian

      i also live in Canada and my husband has been diagnosed with moderate liver fibrosis. The odd thing is that he received this diagnosis as a result of odd bloodwork that led him to an Internist. He had levels of ferritin greater than 1750 and yet he was anemic and low saturation index. The doctors said that his liver damage wasn't due to HH based on the results of the saturation index. I found information online about ferroportin disease and tried to convince them to investigate this further. They have never heard of it and brush me aside. There is no other adequate reason for his liver disease that we can think of. We live in Edmonton and I would love to know who your doctor is. I would appreciate any help you can give me. He also suffers from foggy brain and painful joints. His old bloodwork from 2007 also showed ferritin  levels of 450.

    • Posted

      Hi Betty

      I am not surprised that the doctors have never heard of ferroportin disease.  The doctors here in the UK are the same.  When I was referred to a consultant, many tests were done and the consultant and colleagues had various meetings to discuss what could be causing my ferritin to keep going up when I hadn't inherited the genes from both parents to develop HH.  Eventually, I was referred to a specialist in London and it was this consultant that diagnosed ferroportin disease by having a genetic test done.  He specialises in haemachromatosis and sickle cell anaemia.

      I was told that the discovery of ferroportin disease was only made circa 1996 and the consultant had about 6 people with it on his books.  I was told it is very rare and that they don't know an awful lot about it at the moment.  They are still learning from the very few patients that they are treating.

      I have family who live near Edmonton and when I told them about the disease they were going to get tested.  They told me that they did not have the disease. 

      Then, posting on this forum, Gillian had mentioned that she was having difficulty getting a test done.  I contacted my cousin to see what test they had done to rule out ferroportin disease.  It turns out that they have not been tested.  I need to contact my aunt now to find out what test she had done to rule it out.

      The saturation index is low with ferroportin disease compared to HH.  When my ferritin was at 5006 my iron saturation was 30%.  It sounds very much as though your husband may have ferroportin disease.

      Somehow, you are going to have to get your doctor to take this seriously.  I had a battle with mine, especially as I couldn't tell him what was wrong with me, just that I didn't feel right and the symptoms that I had were very much like menopause symptoms.  He reluctantly referred me.  If he had not have done so, I would have sought a second opinion.  I have to say that after my diagnosis my doctor was very good.

      I hope you manage to get this resolved.

      Best wishes

      Marie

    • Posted

      Thanks Marie for your concern. It certainly is frustrating.

      Betty

Report or request deletion

Thanks for your help!

We want the community to be a useful resource for our users but it is important to remember that the community are not moderated or reviewed by doctors and so you should not rely on opinions or advice given by other users in respect of any healthcare matters. Always speak to your doctor before acting and in cases of emergency seek appropriate medical assistance immediately. Use of the community is subject to our Terms of Use and Privacy Policy and steps will be taken to remove posts identified as being in breach of those terms.