Possible Ferroportin disease?
Posted , 8 users are following.
My name is Chris. I'm 51 and live in southern Ontario, in Canada. I've been sick since March 2017, with hemochromatosis-like symptoms. I have a tender abdomen and diaphragm area. I have extreme fatigue with minor physical activity, and excessive, interrupted sleep. If I exert myself too much I develop a cough. I have had sporadic night sweats, but no regular fever. Two separate one week bouts of Prednisone reduced the tenderness of my diaphragm and ribs, but it came back each time, after finishing the medication. I can't tell when I'm hungry, and at first was gaining weight, but have cut out some of the worst parts of my diet, and I have now lost 15 lbs since January, mostly intentionally. I'm now back to about the weight I was when this started.
In June, an iron test came back with ferritin levels at 1050 ug/L, then in September another test was over 1500ug/L. I had a CT scan in October that ruled out asbestos related lung illness, as I had had prior exposure to asbestos. My transferrin saturation was tested in October, and came back in a normal range (35%), so hemochromatosis was ruled out.
I've been tested for various fungi, moulds, asthma, lupus, rheumatoid arthritis, mono, and everything has come back negative.
I had an abdominal CT scan done in late January, and there is no obvious inflammation or cancer. My doctor had suspected possible lymphoma, which isn't there. In our meeting yesterday, he was about to suggest watchful waiting. I feel like death warmed over, and asked him about Ferroportin disease, having read some posts on this site. He admitted not knowing much about it, but agreed to another ferritin test, and said if it was still high, he would refer me to someone else to investigate that. He said he would have to figure out who to refer me to.
I had that ferritin test taken yesterday, and will have a follow up appointment in two weeks. We'll see what happens from there. I presume he will refer me to a hematologist if I still have high ferritin?
I have had unusual skin pigmentation since November--I look like I've been on a beach all summer, except that I have no tanlines, and the insides of my arms are unusually almost the same colour as my forearms. I've had high blood pressure for about 3 years (normal with meds), that I imagine could be connected to my other symptoms. In December, my shoulders started hurting badly, almost constantly, and most days my fingers feel arthritic, even without any major activity.
I'm starting to experience what I would describe as "brain fog". I lose my train of thought easily, and am forgetting things I normally would not.
My doctor didn't run any genetic tests, as he figured that the normal transferrin saturation ruled out standard hemochromatosis. I understand from looking at various treatment flow-charts that that is standard procedure, but that other inflammation or cancerwill likely be discovered. Which in my case, it hasn't.
My family has a history of diabetes. My father had Type 1 diabetes, his brother (my uncle) had Type 2, and his mother (my grandmother) also had Type 2 diabetes. My father and uncle died around age 50 from related causes, and my grandmother in her 60s. My blood sugar is high normal, but my doctors don't seem less concerned about that than other things.
I have found it helpful reading other posts here. If anyone has any comments or suggestions, I would welcome them.
Thanks!
Chris
1 like, 31 replies
chris98846
Edited
So, a quick update here, in case anyone is following. I had a visit with the hospital doctor this week. My ferritin level is a bit less than half of what it was in September (735, vs 1500), which, I think, is good news. The doctor thinks, possibly just a change in diet, and cutting out alcohol, may be responsible for the change. I've lost over 20 lbs since January. He said my liver steatosis could have been responsible for the high ferritin level. As he said, if it halves again by itself, I'll be within standard range. The doctor thinks it very unlikely that I have Ferroportin disease, given the drop in ferritin level. I'm going to take that as good news, despite not knowing why I still feel terrible.
For now, the plan is to watch and wait. I have a follow-up appointment in 3 months, during which time I am to continue refraining from alcohol, and red meat, lose more weight, and start whatever exercise I can manage. I still get a cough if I overexert, and my ribs and diaphragm are tender. My energy is still up and down, and I'm still averaging about 12 hours sleep in a 24 hour period. I have no appetite, so losing a few more pounds should not be too hard. My night sweats seem to have disappeared, for now, which is great. I still have shoulder and hand pain.
I'm hoping I will start to feel better if my ferritin levels continue to drop.
I will post an update, if/when I get any news. Thank you all for your input and help so far.
sheryl37154 chris98846
Posted
Good luck with your progress.
sheryl37154 chris98846
Edited
A CT scan very recently disclosed my spleen has a cyst on it. I am yet to find out what that will mean to me, apart from what I have gleaned on line. But it can cause left side upper abdominal pain, and shoulder pain among others. I can't say it has caused any of this for me, but then I have so much going on, I tend to ignore a lot and just wear it. I do recognise the shoulder pain and some pressure on my stomach.
I note that you have had a CT scan and one would hope that a spleen problem would have been picked up. I am sure you have a number of issues going on. Even though I have kept to an anti-fatty liver diet for decades, this scan is showing hepatic steatosis. I think I should be investigated for insulin resistence too. This is rather disappointing as there is no improvement I can make in my diet. If this is correct, then I feel I have not escaped the issues we are prone to with haemochromatosis despite being de-ironed for years and being particular about life-style. But I should not jump the gun, and I will have to wait for further investigation.
But anyway, the mention of this is meant to give you another couple of ideas to be checked out for yourself.
I note your last post was 23 months ago, but you recently edited your first post of 24 months ago. Have you had any progress at all with a diagnosis and treatment?
chris98846 sheryl37154
Posted
Hi Sheryl,
I've just posted a longer reply below, but wanted to respond to you directly. I've had a number of tests, and MRIs done in the past 3 years, and it looks like my high ferritin is not related to hemochromatosis whatsoever. I had a gene test for HH and it came back negative, and then it took a while to get a liver MRI, which came back more or less normal: mild steatosis, some hemangiomas, slightly on the large side, but no signs of Ferroportin disease or other illness. I hope your spleen is okay. It's always worrying when anything unusual shows up on a test.
Best wishes,
Chris
selina58849 chris98846
Posted
Congrats on the weight loss! I've lost 5 and a half kilos this year and although I'm tired a lot of the time I've been exercising as well as changing diet and cut right back on alcohol too. Its great your levels are going down. Gives me some encouragement.
hammers8281 chris98846
Edited
hi Chris...sorry to jump on your forum but i was also diagnosed with ferretin levels of 2000 back in august/september last year here in London...after 25 + weekly venesections my ferretin has dropped to 180...i have finally received my genetic test results and i have got ferroportin type 4 A (SLC40A1), a bit annoyed that they couldn't tell me this a bit earlier as the weekly venesections have really drained me and i have struggled constantly(Sheryl you were correct).
They have now completely stopped my venesections as the genetic testing indicated that i may also have ALAS2 which is Sideroblastic anaemia and my bone marrow is not reproducing the blood that i am losing from the weekly venesections. My hemoglobyin is low. They are going to do a heart and another liver ferriscan and bloods for lack of B12 and folic acid and to confirm the Sideroblastic anaemia. I may also need a bone marrow biopsy to confirm if there is iron in the newly created red blood cells. feel like i am being turned into a guinea pig.... any advice/guidance/experience would be greatly appreciated.
sheryl37154 hammers8281
Posted
As Vit C increases the uptake of iron, perhaps this will help improve your anaemia, as well as the Vit B12 and folic acid.
Ferroportin disorder is much more complex than classic haemochromatosis, so I feel for you. It is often hard to get a diagnosis of haemochromatosis because of dr's ignorance, but ferroportin can be impossible and/or take years. It was bad enough that my haemochromatosis diagnosis took 9 years and then only when my hips broke up.
But then the treatment is so much simpler, so we should be grateful for a diagnosis of classic haemochromatosis instead of ferroportin disorder.
Keep in touch with your progress.
hammers8281 sheryl37154
Posted
Hi Sheryl ,
Hope you are well and safe during this pandemic. I haven't done any vx since i last wrote 7 weeks ago so worried how much my ferretin has gone up...last count it was around 180. Because of the lockdown my bone marrow biopsy has been delayed to June. Unfortunately i also started having covid 19 symptoms about 4 weeks and felt dreadful the first 2 weeks, dry cough, tiredness, body pain, shortness of breath. I still dont feel i have recovered and get chest pains/ heart palpatations (although that could just be my ferretin. I also read somewhere recently that covaid 19 can elevate ferretin levels...just our luck i guess !!!
sheryl37154 hammers8281
Posted
I am sorry to hear that you have Covid symptoms and it does not sound like you have been tested. There seems to be a problem getting tested and I expect you have had to batten down to keep away from everyone for a while. No doubt the inflammation of Covid has caused a higher ferritin level, and this will reduce once you are better. As long as you don't end up with respiratory problems, which is the worst, and worse than a higher ferritin level. You can deal with the ferritin afterwards. I really hope you improve very soon.
hammers8281 sheryl37154
Posted
no i didn't get tested, i self isolated for longer than the period advised by the government as the symptoms persisted. On a separate note i wanted to see how much vitamin C and what time of the day you take it...are you still also doing vx ?
sheryl37154 hammers8281
Posted
Yes, I am still doing vx - I don't see a future without it - 21 years so far). I take vitamin C (500mg sugarless chewable) last thing at night. In fact it is still in my mouth when I go to sleep.
When I do fall fowl of a cold or flu (I do have the annual flu injection now), I will have more during the day. Sickness will make your ferritin level higher anyway but then decrease when well. I find it is better to deal with the sickness than worry about ferritin levels.
chris98846 hammers8281
Posted
Hi Hammers,
I'm afraid I don't have any help for you. I just posted a longer post, below, with what I think is going on with me, and it's nothing related with Hemochromatosis/Ferroportin as far as I have been able to determine. I'm glad you've been diagnosed, and know what you're dealing with, but that's a pretty rare condition. I hope you will be able to successfully manage it as time goes on. Are there others in your family with it?
chris98846
Posted
Hi Everyone,
I started this thread a couple of years ago, and have had an interesting and fairly unpleasant ride. I am still unwell and still undiagnosed, but it is extremely likely that I have Myalgic Encephalomyelitis, sometimes otherwise known as Chronic Fatigue Syndrome (ME/CFS for short). There's no diagnostic test for this yet, which means it is diagnosed only by ruling everything else out. A lot of doctors are dangerously mis-informed about this condition, and it was mistakenly determined to be psychological in nature, by a large study published a decade ago, that has been discredited, but not withdrawn. The WHO and CDC have changed their definitions of it to match new research, but many doctors seem unaware of this, and research money has largely not been made available due to the confusion created by this. I seem to also have two conditions that are commonly co-morbid with ME/CFS, namely Mast Cell Activation Syndrome, (MCAS), and Postural Orthostatic Tachycardia Syndrome. I may also have Fibromyalgia, which is another common co-morbidity with ME/CFS.
The primary features of ME/CFS are having Post-Exertional Malaise. You feel worse the day after you exercise and perform worse on a stress test performed the day after you have done one. Brain fog, and memory issues. Flu-like symptoms that get worse with exertion. I'm starting to lose focus, but google "Canadian Consensus ME/CFS" and also "International Consensus ME/CFS" to get a complete list of criteria symptoms. If you don't have an unusually bad response to exertion, you likely don't have ME/CFS.
MCAS is a bit like a food allergy, combined with a mild anaphylaxis; certain histamine containing foods trigger inflammation and release of ferritin. It's a fairly newly defined condition, and a lot of doctors still may not be aware of it. It's something that should be considered if you have persistently high ferritin that is unexplained for other reasons, especially combined with unusual inflammation. I am treating it mainly by avoiding triggering foods, as well as taking antihistamines. I had a doctor prescribe Zantac (Ranitidine), which is a Histamine 2 blocker, but by itself, it's not adequate to stop Mast Cell activation. Adding a Histamine 1 blocker (I am using Loratidine, brand name Claritin) in combination with an H2 blocker, seems to help tremendously. My inflammation has cleared by about 90% since starting this diet with antihistamines. My GP is either uncertain how to test for MCAS, or doesn't think it is necessary, but he agrees that I seem to have it.
POTS is a condition that is also fairly newly defined, and is a condition where your autonomic system fails to correctly regulate heart rate. My heart rate will be 70 bpm lying down, and then jump up to over 120 bpm within minutes of standing up. I get dizzy when this happens, similar to what you would expect reading about hemochromatosis. I get that dizzyness if I get up too quickly from crouching to get something from a low shelf at a grocery store. I seem to be able to improve my symptoms with increased salt intake and electrolytes (drinking Gatorade helps).
Myalgic Encephalomyelitis is surprisingly common. In Canada there are an estimated 550,000 people with it. It can be debilitating, and outcomes are often worse in disability and lifespan than having MS. For comparison, there are about 60,000 people with MS in Canada. (And there are about 80,000 in Canada with type 1 Hemochromatosis). Like MS, there is currently no cure. If you have high ferritin, it is much, much more likely you have ME/CFS than Ferroportin disease. Being told to exercise by doctors, early on, made it much worse for me, and caused a "crash" that has led to short term memory loss, caused by damage to white matter in my brain (seen on MRI). It's possible I may still be diagnosed with MS, if I have further exacerbations, but I am resting aggressively and treating my co-morbidities as best I can. I am currently feeling better than I have in the past year.
I had thought that this thread was closed due to inactivity on it, but hope that some of you who posted previously will see this. I will attempt to check for responses to this over the next while, as I have recovered the password to the email account I use for this site.
I hope you are all as well as can be, and avoiding covid-19.
Best wishes!
Chris
sheryl37154 chris98846
Posted
Hi Chris
What a roller coaster ride you have had and no doubt all this information is due to having had to search for it yourself.
Just for information, during the 9 years I was seeking a diagnosis, it was decided by the dr that I had ME/CFS until my hips broke up in year 9. I did not accept this diagnosis and thought it was an easy way out for the dr but google did not exist then. I remember my dr telling me to go for a run before work!!! Such was the ignorance.
I discovered that a medical research team in Newcastle, Australia, was working on a study to diagnose CFS and I applied to participate. I sent in blood and urine samples. I cannot remember the terminology but they confirmed the chemical marker that they had been looking at for CFS. Just as I received their confirmation, my hips broke up and I was diagnosed with haemochromatosis. So I have both, which might explain why the fatigue of haemochromatosis never went away with venesections.
A long while back (too far for my memory) I read about the foods that contain histamines triggering inflammation in my search for some relief for my husband from sinus. I cannot remember the results of it except that it did not appeal to my husband to follow. What are the foods that trigger it for you? I think Gilbert's disease does the same thing, and those with it have to avoid foods that trigger this inflammation. Sometimes it goes hand in hand with haemochromatosis. Inflammation does cause an increase in ferritin, but without having GH, it does not require venesections. Although donating blood can have a beneficial effect regardless.
Quite often I get cold like symptoms out of the blue with runny nose, sneezing, etc which sounds like an allergy, but to what? Sometimes it occurs when the weather is hot, and sometimes it occurs in airconditioning. Anyway after trying Fexo 180, someone put me on to Periactin (Cyproheptadin Hydrocloride). It may be something for you to check out. My husband is getting some relief at night from the Fexo 180. He has not tried Periactin yet.
I am finally having a US of my spleen next week - I forgot to fast for my appointment this week. I had to keep pushing my gp to write out a request. From what I have read, my 'smallish' cyst is most likely harmless, but the radiologist advised I should have it checked out anyway to find out what sort it is for starters.
Keep in touch and let us know how you are going, if anything changes, or if you have a further breakthrough.
Good luck
Sheryl