Ferroportin disease (Haemachrotomasis type 4a)
Posted , 3 users are following.
Dear all
I have been diagnosed with ferroportin disease ( Haemachrotomasis type 4a) in July 2018. The haematologist has started my venesection treatment pretty much immediately after my diagnosis. After 8 venesection, my ferritin has dropped from 1200 to 200, the target is 50. I still have a few more venesections to go before reaching the target
I would just like to check with those who have been through this if your conditions improve when your ferritin level dropped to 50?
The only symptom I have at the moment is the aches and pains in my upper right abdomen and that radiate to the back underneath the right shoulder blade, and I feel tired easily nowadays. This is affecting my daily life and I just wonder if there's anything else I can do to relieve the symptom?
Any help or advice you can offer will be highly appreciated.
Best regards
Joe
0 likes, 8 replies
sheryl37154 joelondon
Posted
Not always, it is different for everyone. Possibly it depends on how long you have had this before diagnosis. Do you still have a high TS%? With HH, often issues do not resolve until this is reduced to <45 or 50 too. Keep having vx after ferritin reduces to <50 but at lesser frequencies.
I am not experienced with Ferroportin but it looks like you are doing very well. Often those with Ferroportin cannot keep up with the numerous vx because of developing low haemoglobin.
With regard to your abdominal pain, get it investigated. Even though it may be caused by Ferroportin haemochromatosis, it is still a health issue, whether it is caused by this or not. It still should be investigated and appropriately treated as per normal.
joelondon sheryl37154
Posted
Hi Sheryl
Thank you very much for your advice.
I am not sure how long have I had the high ferritin level as it was only discovered from a routine blood test last year. I am glad it is down to the normal range now though I am still having abdominal pain which started almost at the same time after the blood test.
I have also done Ultrasound, MRI, FerriScan, FibroScan, liver function tests in the past but the results did not show any anomalies other than a few small polyps in the gallbladder.
I don't have info about my recent TS% but I suspect it is not high after a series of venesection.
I will be seeing my GP this Friday to discuss the gallbladder Ultrasound results. I may ask him to refer me to the gastroenterologist for further investigation.
Best regards
Joe
sheryl37154 joelondon
Posted
Your scans would have picked up anything connected to your kidneys too. Ask just in case.
This problem may be coincidental to Ferroportin so having other investigations is necessary. Also, Helicobactor Pylori thrives on iron (this eventually causes ulcers). I have had 3 treatments for this as it keeps coming back. And my personal hygiene is extremely good.
It can also be transferred by sharing of breath (i.e. with a close partner), and sharing drinks, etc. Early this year my husband was diagnosed with it - discovered by an endoscopy while investigating something else. He had not had any symptoms - not like my 6 duodenal ulcers.
So maybe I gave it to him in the first place, then he kept giving it back to me unknowingly.
There is a test which generally involves drinking an acidic drink (lemon) then blowing unto a balloon or a tube of some sort of fluid which then changes colour. How it is tested has changed each time I have been tested. Can get false negatives, I am told.
Treatment involves a massive dose of 2 antibiotics and Nexium (all 3 in one box as a kit - cheaper this way, instead of 3 individual purchases). Lots of probiotics afterwards.
That is one example of what is possible. So keep the dr searching rather than giving up.
Let us know how you go as all this information is valuable to us all.
PS: I never got rid of my fatigue. I have short days then I have to give up and lie down, or recline.
joelondon sheryl37154
Posted
Hi Sheryl
Thank you ever so much for your advice and your encouragement! You may not realise how heartening this is for me coming from a total stranger across the world. I've been feeling so isolated as none of my friends nor my family have ever heard of the conditions I have even though they are sympathetic.
I went to see the GP on Friday to check the results of my gallbladder ultrasound results. He said the size of the polyps have been static in the last 10 years so the aches and discomforts in my right abdomen is not likely to be caused by the gallbladder, nor the liver as previous scans did not indicate any problem with it.
I then mentioned this forum and what you experienced i.e helibactor pylori, and I also told him I have acid reflux every now and then as well as problem swallowing food sometimes. That seemed to prompt him to want to investigate if I have helibactor pylori. He organised a stool test for me immediately and also prescribed a month supply of Omeprazole for me, this medication should treat the issue if I have it.
So I'm glad things are moving in the saga to deal with the abdominal pains, hopefully this is it and we don't need to go down a different route. Once again, I'm very grateful to you for your help. If you do have any other ideas or experience to share, I would be very pleased to hear them.
Best regards
Joe
joelondon sheryl37154
Posted
Hi Sheryl
Hope you are keeping well.
I just wanted to keep you updated about my findings since we last corresponded here.
The stool test I had showed negative for H Pylori, I was prescribed Omeprazole to start after the stool test. The medication worked really well initially for a few months and then the stomach discomfort returned. I am now prescribed with Lanzoprazole and it seems to work at time.
My GP had also organised Endoscopy and Colonoscopy for me at the same time, the results were all clear and no issues found.
My recent gallbladder ultrasound follow up indicated a bit of fat in the liver though nothing to worry about at this stage. I think this is non-alcohol related fatty liver as I don't drink at all. So I'm still none the wiser than before as to the reason for my right abdominal discomfort at times though I suspect it may be a combination of acid reflux and early stage of fatty liver. I've always been eating a healthy diet so hopefully the condition will not get worse.
Any update at your end?
Best regards,
Joe
sheryl37154 joelondon
Posted
It is so frustrating, isn't it. The Omeprazole sounds like Nexium which is used for heartburn and reflux, same as Lanzoprazole. Omeprazole on its own would not have treated HP because it also needs 2 types of antibiotics. But that was not your problem anyway.
Perhaps you could google to find a way to reduce the acid in your stomach (like a glass of water with some bi carb soda in it) but not too often as you do need acid to digest. PPIs (Nexium, Omeprazole, etc) reduce the uptake of iron, but unfortunately a lot of other minerals which are essential too.
Investigate the medication Motillium to see if there is anything about it that could work for you.
Low grade fatty liver generally does not cause any symptoms, unless we are used to being pristine. Eliminate all sugar type foods as well as starchy carb foods like potatoes, bread, pasta (sob!), etc. If it is hard to do without bread, find a bread that is very seedy and looks like it has been made from the sweepings off the floor. It is sugar that causes fatty liver.
Nothing new happening for me. I still struggle with fatigue and body pain if I try to do the same as pre HH. That is not the same for everyone. My dr took 9 years to diagnose me so a lot of damage was done. Apart from taking Vit D3 drops and having a 3 monthly Vit B12 injection (tablets are a waste of money), CoQ10 and Vit E has been reported by French HH researchers to help repair the damage to the mitochondria caused by HH, so I take some of those,
Once in a while I feel like my duodenal ulcers have returned but because it is not consistent, I do not worry about it.
Hopefully, one day, something will click for you which will remedy your pain.
kristin07815 joelondon
Posted
You should definitely have this checked. Too much iron in your blood for a long period of time can affect your organs. I have cirrhosis of the liver which is most likely caused in part from the iron. I was suspected of having this twenty years ago but because I had a clean liver biopsy, nothing was ever done. I did not start having phlebotomies until a year ago, which obviously is too late for my liver, but it has stabilized. Do not wait!
joelondon kristin07815
Posted
Hi Kristin
Thank you for your good advice.
As I mentioned to Sheryl in my reply above, I have done a lot of scans and tests for the liver and gallbladder but all appeared ok.
I think the FibroScan I had recently would have indicated any cirrhosis, if I had it.
I don't drink any alcohol and have a healthy diet. Hopefully this helps with my health condition to a certain extent.
May I know if you have Ferroportin disease or other type of haemochrotomasis?
Best regards
Joe