My condition, hypophosphatemia and oncogenic osteomalcia started about 3 years ago, however, was not diagnosed until six months ago. It started very gradually with body stiffness that over time worsened to bone and muscle pain and weakness. Was examined by all kinds of specialists who really didn't know why I had so much pain just walking, sitting and getting in and out of bed. My Rhematologist had been very puzzeled by some of my blood test results concerning alkaline phosphates being 3 times as high as they should be. Vitamin D testing showed I was severely deficient. Subsequent examination, blood tests and bone biopsy by an Endocrinologist indicated oncogenic osteomalacia and hypophosphatemia being caused by a tumour somewhere in my body. The tumour gives off something that causes my Vitamin D and phosphates to become deficient in turn causing the bone pain and muscle weakness. Subsequent CT scans and PET scan have not located the tumour. Am taking medications that are helping somewhat. Want to communicate with someone who has this condition or recovered from it. Have questions about medications, rehabilitation and generally knowing about their experience.
Further to my first posting, am now experiencing problems with severely elevated levels of protein in my urine. My kidney doctor thinks it may be due to diabetes, however, is not sure and now going to do a kidney biopsey. My diabetes is well controlled through diet and do not taken any medication for it. My vitamin d levels and phosphate levels have increased with medication and are in the low normal levels. Further x-rays have not found any tumour so far and am scheduled to have an MRI in one months time. Am hopeful they will find something as this has been going on for almost a year. Have not heard from anyone on the Patient UK site with my medical problem. Can it be that rare?
Hello Lucille
Are you still out there I see you posted in 2007! I also have hypophosphatasia! I know how you feel!
Hi,
I have just found this post and it's now 2014. I was diagnosed with hypophosphateamic osteomalacia about 2 years ago. I had multiple fractures which I did not know I had due to the pain from a back problem. Like you, they have not found the tumour and I have had PET, MRI, CT and nuclear scans. I have done some research and the tumour produces a protein calls FGF23 which stops the kidneys producing Calcitriol. It's the Calcitriol which combines the calcium and phosphates to make bone, so I understand. Although my levels of phosphates are now level I am having problems with my spine and this is ongoing. At least I am not getting many fractures now (I have had over 20 to date).
all I can say is chin up and there are others like you out there.
I have just been diagnosed with this and I am very interested to know how everyone is managing. Elderberry and Cator1956 too, this seems so scary but at least I have found other people with this rare condition. Thanks A
Hi,
I am sorry to hear that you have been diagnosed with this. Unfortunately, there is no a lot of information on the net but I have managed to gather quite a bit since I was diagnosed. The first thing is, don't panic and get your meds right. You are in it for the long haul but things do slowly get better. Mine was not diagnosed until it was very bad so I had lots of fractures. Now, things are settling down.
i don't know how much you know or want to know but I will help help if I can.
Regards,
Thank you so much for replying. I have been in pain for almost three years. I have seen many drs but now at least feel I am getting somewhere. I really just want to know what to expect as the last while has been so hard on me but now I feel like there is light at the end of the tunnel?!? I have looked all over the web for information but haven't found anything that will tell me what to expect.
Thanks again
A
Hi Annette,
I van only tell you about my experiences. Firstly, I have a very good doctor who is in rheumatology. He worked at the Ntional Orthopeadic Hospital which is where he came across it.
My treatment consists of Calcitrio and Phosphate Sandoz suplements.
My understanding is that this is all caused by a benign tumour which is very small and can be anythwere in the body. The tumour puts protein called FGF23 into the blood. When this gets to the kidneys it stops them producing Calcitriol. Calcitriol is the substance which joins calcium and phosphate to make bone. So the Calcitriol and osphate Sandoz replace the one I dont produce. I now make bone but very slowly.
I have all sorts of scans to find the tumour but so far they have not found it. The chances are that I will now have it for life and have to take the suplements for life as well.
I was not aware of my fractures at first but an MRI showed fractures to both hips, both knees, both ankles, hip socket, sacral joint and numerous small fractures of the spine. Since then I have broken about 9 ribs, I have had 4 operations on my lower back to correct problems and I am now awaiting suegery on my neck on multiple levels to correct further problems. I have been retired on ill health grounds as my case was severe and is therefore taking longer to heal. Do not be alarmed at my case as I am still happy and positive and can expect to live for as long as normal.
I hope that helps, your case may well be differant. Good luck.
Thanks very much this makes a lot of sense, also puts my mind at rest! It sounds like you have been through the wars. I'm 35 and was worried about the long term effects. I don't think I have as severe a case as yourself but I'm sure an MRI will confirm that. You sound very positive and I'm sure that helps to keep motivated through tough times. Thanks again for taking the time out to chat its nice to know I'm not alone.
Hi,
younarenpreparedmto onlyother person I have come across who has the same thing. The consultant at the Royal National Orthopeadic Gospital said that the comes across no more than 4 cases a year and they come fro all over the country. Rare huh?
ifmi can be of any further help or you want to chat about your experiences I am here anytime.
things will work,out so keep your chin up.
Hello!
I tried posting this before, but I'm not sure if it was successful. I' sorry if I'm repeating myself. I'll try to make my long strory short.
A while ago, I was diagnosed with Tumor-induced osteomalacia (TIO). The tumor was found on my left foot and removed in July 2012. The lab results are getting back to normal and I am feeling better, but I still have questions.
For over three years I visited more than 20 physicians for the increasing pain I felt in my bones and muscles. Finally, in March 2012 a nephrologist suspected that I had TIO and referred me to another nephrologist who treated a few patients with the condition. The blood tests and later PET scan confirmed that I indeed had TIO. For 10 years, I was thought to have a simple ganglion cyst, but, of course it was more than that!
I'm thinking that TIO is probably more widespread than we know. I understand that there have only been about 300 documented cases in medical literature.
As you know, it is a mysterious and frustrating disease for physicians, patients and their families. The suspicious tumor was removed but I still have pain and questions.
The articles I have read do not inform patients what to expect after the tumor is removed and blood tests return to normal. My doctor told me that tumors can return in different places. When I asked if he knew of any articles on
follow up studies, he said he did'nt know and said goodbye! Thanks!
There are no support groups either. I'm sure other patients, like me feel isolated and alone, unsure of what to expect in terms of recovery.
Please let me know what you have experienced. I would really like to hear about good physicians in the UK and US.
Thank you-we're not alone!
Belleek Bones 
Hi,
Your posting was successful this time. From my experience this condition has at least three names, TIO, Oncongenic Osteomalacia and Hypophophateamic Osteomalacia. This is part of the problem when you surf the net for information. I was diagnosed several years ago but, so far, they have not been able to find the tumour, even after PET scan and several other neuclear based scans. It seems that these tumours can be as small as 2mm and anywhere in the body. The research I have found shows that not finding the tumour ranges from 26% to 76% of cases. Like other tumours it is possible to have secondary tumours so you may need further scans. My doctor is a rheumatologist who worked at the Rpyal National Orthopeadic Hospital and this is where he had seen it before. This man has been brilliant and helped mergers step of the way.
Very few doctors appear to have heard of this which is why, I suspect, there are not many cases diagnosed. One good thing is that most of the information on the net is published by doctors so there is very little scare mongering.
I can only wish you well and offer to share any information I do find.
Hi Cator1956,
Thank you for your prompt response. Yes, there are many names for such an exceptionally rare condition!
I plan to go back to the doctor who ordered the lab work and PET scan. He really doesn't seem to care very much and that is why I am wondering if anyone can give me the name of a physician who is interested in both the numbers and the patient-me (and you)!
I hope your active tumor will be found soon. Please feel free to write any time. It's nice to know others understand.
Hi,
you our are only the second person I have found with this.
The docotr I see is Dr Haq,,Rheumatology at Brighton and Sussex Univercity Hospital. He is very patient focused and goes far beyond what can be expected from him. Simply, he is the best doctor I have ever come across.
I have given up hope,of,finding the tumour, given the number of scans that I have had. Also, it seems that my condition is much worse than they first thought. I am currently waiting for surgery on my neck where the bones have started to crumble and are crushing the nerves. As this is at multiple levels this has become a somewhat risky operation. It's wothnthe the risk though, given the pain that I am in.
please let me know how you get on.
regards,
Hi,
Thank you. I will try to contact Dr. Haq and let you know how things go. I will send good thoughts and prayers your way and to everyone in this forum who struggles with this mysterious condition. It is my hope that something good will come out of it for all of us!
All the best and stay courageous!
Hi everyone. I'm currently under investigation for hypophosphatemia with raised phosphate in my urine. I have had this along with worsening bone and muscle pain over the last year. I suggested to my Dr to test for TIO as he isn't too sure what is causing it, but he suggested that it is too rare and if it was that they wouldn't e able to do anything as the tumours are too small to find.
I just wondered if there was a blood test that my Gp could do to either confirm or rule it out? Thanks
Hi,
welcome to the club. The test for raised phosphate in the urine seems to be the basic test for this. Have you had any fractures? An MRI will reveal not only the ones you know but also small fractures that you may not know about. It might just find the tumour as well, if you are lucky (it didn't find it in me). The treatment is taking phosphate sandoz and Calcitriol tablets. Both these replace what your body is loosing. Think of it as being like a bucket with a hole in it, you need to replace what the bucket is loosing. Your bones will recover over time, how long depends of how bad they are when you start. A year or more is not unknown.you will have to stay on the supplements for life or until the tumour is removed.
I hope this helps.
Thanks very much for the quick reply Cator. The bucket explanation makes more sense to me. Yes I've been on phosphate sandoz for a few months to replace what has been urinated out. I've just been told that I need to take 4 a day spread evenly across the day. My Dr suggested that the routine of 2 in morning and 2 at night leaving a gap of 12 hours is not recommended, and is probably why my bone pain hasnt improved much.
On another note Is there a blood test for FGF23 available? I had an xray of my hip which came back normal and its the one bone that's giving me the most grief.
My understanding is that the Phosphate Sandoz should be evenly spread throughout the day.
i am not sure if there is a blood test for FGF23. My own doctor tests for bone profile.
As for your X-rays, have you had a bone density test? If your bone is below normal this may cause the pain even though your X-ray was normal.
Articles are few and far between on the net but the good thing is that most are written by medical staff so you don't get the scare mongering that you normally get.
If you want an expert, ask to be referred to the Royal National Orthapeadic Hospital. They see cases from all round the country so have the most expertise in this area. My doctor worked there which is why he thought to test for it in the first place.
Hi Thundercatzz,
Yes there is a blood test for FGF23! Mine revealed a high normal level
of serum FGF23 at 134 RU/L (normal <181RU/L).
A PET scan found the suspicious tumor on top of the left foot. We thought it was a simple ganglion cyst ( I have a history of those) but the PET scan detected uncreased uptake in the foot and it was removed.
I have to go now. I'll be back with more info.
Good luck and a happy and healthy 2015 to all!