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

From what I've seen everyone seems to respond differently, so from my point of view, your question is a little hard to answer as I can only tell you about my personal experience.

For me, when I was diagnosed (at age 21) my ferritin level was only at 600+. I had phlebotomies every two weeks for about two months, then it dropped to four weeks, six weeks, two months, and now I'm at hardly ever (as my iron builds up very slowly, something of which I am very grateful for).

For the past two years I have felt more fatigued than I ever have before (including when my iron was much higher than it is now). When I went to the doctor a few months ago, I found out that during that time, my ferritin level was below 50. So obviously, having it be that low is not my optimal level. I've been feeling better recently, so long as I get enough sleep (about 8 hours) I feel pretty good during the day, the best I have in about five years (I'm 25 now). I'm still trying to figure out what the appropriate ferritin level is for my body as everyone's different (and where I am the normal range falls in between about 12 and 200. Last blood test (in June) said I was at 48. And that's... 7 months beyond my last phlebotomy. So I'm climbing very slowly as when it was tested in March I was only at 40).

That being said, I know that a lot of people on this board have experienced that kind of joint and muscle pain. I'm not exactly sure what there is to do about it at the moment other than taking pain medication. Have you spoken to your doctor about this? They might have some suggestions. Or perhaps you need to go in more frequently?

You should ask for a printout of your latest test results to really show you what's been going on in terms of all of your levels.

My optimal level of ferritin iron is 34, then as my ferritin iron builds up again, so does the fatigue and pain.

As iron can accumulate in lymph glands, muscles, joints, I am going to try lymph massage first, see what happens, then muscle massage and see what that outcome is.  Maybe end up doing both if necessary.  Trouble is, it is another damn job to have to do, so I have not got a 'round tuit' yet!

But it is out there as a suggestion.

I read loads about ferroportin disease a while back as my consultant thought I might have this (I am not sure what he currently thinks but we still work on the premis that it is, as it all fits) and I wonder if you have read a disucssion of ferroportin disease by clara camaschella "diagnosis and treatment of non HFE-haemochromatosis" - if you google that you can down load it for free - I think it is a chapter (24) in a book about iron disorders in general. Clara Camaschella seems to have an acadmeic interest in iron, so is a reliable resource. Also if you go to "rarediseases-dot-org" -the National Organization for Rare Disorders (NORD) web site - there's info there too.

My impression is that the symptoms of HH gradually resolve with venesection but it is only when you get down to low numbers that you really start to feel better - in my case less than 50. 

emu oil ?  - wtf ?-  someone's being taken for a ride with that one!

Based on my clinical situation (ferritin up to 1400 ug/L, profound fatigue, pain around joints, and getting low serum iron and anemia in response to phlebotomy – now down to ferritin 250 ug/L or so), I think I have ferroportin loss-of-function disease.  However, I live in Canada where ferroportin disease is not well known nor readily diagnosed.  As a result, I’ve been digging into the medical literature trying to find out what is wrong with me and how to fix it.

Based on the reading I’ve been doing and my own experience, I can think of four possible factors that could possibly contribute to aching, pain, and stiffness of and around joints – some of which might be worth discussing with your doctor?

1.       Low blood iron/anemia.  Because the problem with ferroportin-loss-of-function disease is an impairment of ferroportin’s ability to get iron out of cells, it takes a while for what ferroportin function there is to remove excess iron from iron-overloaded cells to send to the bone marrow to use in replacing the red blood cells that were removed by phlebotomy.  As a result, if you drain off blood along with the iron that the blood contains faster than the disabled ferroportin system can get iron out of the iron-overloaded cells, your blood actually becomes *low* in iron and then you become anemic – even while your iron-overloaded cells are still iron-overloaded.  Being low on blood iron and/or being anemic makes one tired – and it also makes muscles tired, so that they ache and then stop functioning properly when you use them for any length of time.  As others have noted, the solution is to wait longer in between phlebotomies, to give the disabled ferroportin system enough time to do its job.

2.       Iron or calcium deposition around joints.  I have aching joints (mainly hands, wrists, SI joints) along with fine white densities around my joint areas showing on X-ray that are described as “soft tissue calcification.”  (Although, as I have never had an MRI, I don’t know if the white speckles are calcium or iron.)   The speckles seem to be in the areas that hurt and get stiff, so they may be related.  If the speckles are iron, one would expect them to disappear when iron overload is corrected.

3.       A direct effect of tissue iron overload.  As far as I can tell, the MRI studies so far done on people with ferroportin-loss-of-function disease haven’t looked at iron overloading of tissue in and around joints – so far the articles I’ve seen mention heart, liver, spine, spleen, and pancreas.  (I also suspect iron over-loading of the brain cells may be involved, based on my difficulty thinking and finding words – which does seem to be getting a bit better as my ferritin comes down.)  However, one doctor I saw who had practiced previously in hematology told me that she had patients with high ferritin who developed anemia with phlebotomy (i.e., patients who probably had ferroportin-LOF disease) and who also had joint pain found that their joint pain went away once they had got rid of their extra iron.  Also, one of these patients could tell when her joints started hurting again that it was time for a maintenance phlebotomy, which was very convenient, because if she paid attention to her joints, she didn’t need regular blood tests to track her ferritin.

4.       Some other condition that causes joint stiffness and aching – and maybe some of the ferritin elevation, too.  As an example of another condition, I have “palindromic arthritis” – a condition in which one of my joints suddenly decides that it will swell up and become red and hot and painful – for a week or so, after which it goes down to normal as though it had never misbehaved.  Fortunately, in my case, I discovered that when I’m completely off gluten, I get no more joint flares.  Another example might be rheumatoid arthritis or other inflammatory condition that could cause both joint aching and ferritin elevation.  So, someone with painful joints and joint stiffness after rest who has iron overload with very high ferritin *and* an elevated C-reactive protein (CRP) may have some inflammatory condition in addition to iron overload.  (Incidentally, palindromic arthritis is part of a group of inflammatory disorders that includes rheumatoid arthritis (RA) and lupus.  I was told by my first rheumatologist that 1/3 of the time palindromic arthritis turns into RA, 1/3 of the time it turns into lupus, and 1/3 of the time it just stays palindromic arthritis, but there was no treatment for it.  So of course I went online to see what others had to say and found a number of postings from people with RA, or with lupus, saying some variation of “and then I went off gluten and I was able to cut my meds right down / come off my meds altogether.”  I thought going off gluten was worth a try and since then I’ve had no more joint flares – unless I accidentally eat something with gluten in it, which quite consistently triggers a joint flare a day or two later.  Going off gluten also stopped the so-called “irritable bowel disease” I’d had for decades.)

And two suggestions of something that might help soreness:

1.       Magnesium  – rubbing a topical magnesium preparation of some sort on the sore areas.  The simplest is magnesium chloride “oil” – just a solution of magnesium chloride in water, but it feels “oily,” thus the name.  You can also get commercial topical preparations of magnesium.  I make my own magnesium chloride cream using a hypoallergenic cream base (Glaxo base) and magnesium chloride crystals.  Soaking in Epsom salts, which are magnesium sulphate, may also help.

2.       Correcting low vitamin D.  Being low on vitamin D can cause aching muscles. 

I hope some of this is helpful –

All the best,

Gillian