Haemochromatosis - Type 4 Ferraportin Disease

Hello

I have ferroportin disease and my ferritin was at 5000 with an iron saturation of 30% when I was diagnosed.

The treatment is the same as for hereditary haemochromatosis except that we are  not bled as often because we risk the chance of becoming anaemic.  I know that sounds crazy when we are overloaded with iron but ferroportin disease does not respond well to phlebotomy.

I was bled every fortnight and my hb levels were monitored very closely.  My hb was at 12.7 when I began and after ten weeks it dropped to 11.0 and after eighteen weeks it dropped to 10.8.  At that point the nurses needed approval from my consultant to continue with the venesections.  This was because their protocol was to allow the hb to drop to 11.0 only.  I was starting to feel tired and get a few headaches at that point, so my venesections were moved to three weekly.  I felt better but then my ferritin plateaued (not sure of spelling) and it wasn't coming down very much.  The decision was made to put me back to fortnightly and my hb stayed pretty much at the 11.5 to 12.6 mark.  I was pleased about that as I was keen to get my ferritin down as quickly as possible.  Maybe my body was getting used to having 350ml of blood being taken every fortnight.

The amount of blood taken won't be as much as for hereditary haemochromatosis patients as they can tolerate very frequent venesections.  They generally have 450ml removed at each venesection.  You may be put on a similar amount to me at 350ml each time.

You will be sent for an ultrasound scan on your abdomen to check for any damage to the liver and other organs. 

Are you in the UK?  My consultant is in London and I was sent for a ferriscan (an MRI scan that checks for iron in the organs) on my liver and on my heart to see how much iron had been deposited in them.  I had iron overload in my liver but not in my heart.   The reading was 13.7mg/g dry weight, the normal level is 2mg/g dry weight.  I was then referred to a hepatologist to check to see if I had any liver damage.  We discussed about having a liver biopsy but I was not in favour of this, especially as there is another alternative now which is called a fibroscan.  I was sent for one of those.  A fibroscan is a device much like an ultrasound device except that a cylindrical object is used to place on the skin between the ribs.  This then sends a beam to the liver (you feel a thump from the cylindrical object) and a reading comes back.  The higher the result the harder your liver is, meaning that there is damage to the organ.  Mine was at 4.5 which was considered a normal range for my age (I am in my early 50's).  My liver is considered to have slight fibrosis.

Although our condition is rare and we can't be bled as often as the HH patients, the damage to our organs is not as bad as someone with HH.  As my ferritin was at 5000 I was terrified that I has severe liver damage.  We load iron in the macrophages (you will have to look that up as it is a bit technical for me to explain although Gillian has given a good description on a post of mine) which transports the iron in a different way to HH patients.

The outlook is positive.  I am now in maintenance phase after three and a half years of venesections.  It took roughly 65 to 70 venesections to get down to a ferritin level of 200.  That is the target for me rather than the 50 or less than 50 for HH patients.

My only problem is that I am a needle phobe and one look at the standard venesection pack sent me into a panic and left me traumatised after a failed venesection using it.  My veins just aren't big enough to take that size needle.  If you don't like needles you can have a smaller one.  It can be done by a canula and a bag attached.  The needle I have is quite small but I am happy with that.  It takes about 15 to 20 minutes to get the blood out but at least I am not traumatised and it is better for my veins.  You have got to look after them.

I hope my experience has helped and I hope to communicate regularly with you on this forum to exchange stories, experiences etc.

Best wishes

Marie

OMG nearly passed out on my last section on Monday - if they must have a novice using your arm as a pin cushion can she please have some sense of direction   At one stage there was more blood over the pillow than what was in the bag - must of lost at least 25ml  Some medical staff must understand if you see a patient wincing and looking pale you do not keep trying to stick the needle in to the vein! Was only that she was not bad looking that I felt oblidged to let her carry on lol

Hello, abittight, welcome to the club!

First off, I should say that I don't know if I have ferroportin loss-of-function disease or not, as I have not yet been able to get genetic testing done where I live (Canada), but I can’t find any other diagnosis that fits my situation.

As Marie says, the treatment for ferroportin loss-of-function iron overload is bleeding.  In my experience, slightly smaller amounts are taken than for regular (HFE) haemochromatosis.  The intervals in between phlebotomies gradually have to be increased to give the poor malfunctioning ferroportin enough time to get the next lot of extra iron out of the iron-overloaded cells so the bone marrow can make more blood so one can be bled again.

Handy hints for phlebotomy include –

Be really warm.  The warmer you are, the more your peripheral veins dilate.  Nicely dilated veins make it easier to get the needle in, and give more comfortable and faster bleeding.

Have enough water and salt on board before your phlebotomy.  They usually tell you about drinking lots of water ahead of time, but may not mention that people on a lowish salt diet also need to up their salt intake a day or so before phlebotomy.

A smaller needle will often do the trick if they put a blood pressure cuff on higher up your arm and keep it inflated just below diastolic pressure to increase the blood flow.

Hope some of this is helpful!

Gillian

PS In case it’s of interest, a summary of my situation -

I have always had extremely heavy periods (I have some sort of tendency to easy bleeding that one hematologist found to be von Willebrandt's disease type 1 but one hematologist doesn't think it is so who knows).  The heavy regular bleeding pre-hysterectomy – which I estimate at around 350 cc per month - kept my hemoglobin and ferritin at reasonably low levels until I started taking more than the recommended amount of iron with vitamin C, then had a hysterectomy.  After that my ferritin went up - from 387 ug/L in 2004 (the year I had my hysterectomy) to 1438 in Dec 2012.  In May of 2012 my iron saturation was 29%.  Symptoms were extreme fatigue and joint pain.  At first I was considered to have some sort of seronegative autoimmune arthritis but trials of anti-rheumatic drugs didn’t help.  I was then told to see a hematologist to check out my iron status.  My first hematologist felt on a clinical basis that I had some sort of non-HFE iron overload disorder.  She would have done a liver biopsy had it not been for my tendency to easy bleeding, so opted instead for a trial of phlebotomy and planned to order an MRI if the phlebotomy response was consistent with ferroportin loss-of-function disease.  Unfortunately, she left the area shortly after I started phlebotomy.  I was tested for the HFE gene and am normal for C282Y, although I am homozygous for H63D.  (H63D isn’t supposed to cause iron overload, at least not by itself.)

Starting November 2013, I have now had a total of 25 phlebotomies for a total of 7.45 L of blood removed.  I started out with weekly phlebotomies of 250 cc, then, as I figured out what to do to make phlebotomy more tolerable, worked up to 350 cc.  However, my hemoglobin dropped from about 124 g/L before starting phlebotomy to 111 g/L just prior to my second phlebotomy.  I have gradually had to extend the intervals between phlebotomies and am now having 350-400 cc removed every 5-6 weeks or so.  My hemoglobin has mostly been between 110-118 since.  My last ferritin was 84 ug/L.  Target is 50 ug/L.  However, going by some articles in the medical literature, because the ferroportin isn’t functioning properly to clear excess iron out of the tissues, reaching target ferritin doesn’t necessarily mean that all iron-overloaded tissues have been cleared of the extra iron – you need an MRI for iron to determine that.

My second hematologist has finally agreed to order an MRI and I just had it done – will get results in a few weeks.

Liver ultrasound shows that my liver tissue is fine, with no fibrosis.  (The ultrasound also found multiple liver cysts, currently being investigated, not yet diagnosed . . . but I think are most likely E. granulosus cysts related to hanging around with dogs that ate raw moose carcass trimmings.  I mention this just because being checked out for high ferritin may result in incidental findings that probably wouldn’t have ever caused trouble if not found but once found probably should be checked out.)