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.)