Hypophosphatemia & oncogenic osteomalacia

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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.

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  • Posted

    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?
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  • Posted

    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.

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    • Posted

      Hello there, I just join this group chat. Im very curious becausei find out 3 months ago that i have 15+ fractures in my body. Before that i only had back problems but i was fine. Now i cant resist the pain, I'm on a wheelchair and the doctors can't find what do i have. I really think is oncogenic osteomalacia

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    • Posted

      Hi Jeff,

      well done at finding us. Information is hard enough to find so I will let you know what I have been told and I hope it helps you.

      This bone condition is caused by a (usually) benign tumour which can be anywhere in the body. It can be as small as 2mm so in about 76% of cases it’s not found.

      The tumour puts a protein called Fibroblast Growth Factor 23 (FGF23) into the blood stream. When it gets around to the kidneys it stop them producing something called Calcitriol. Calicitriol is the glue which joins phosphates and calcium to make bone. Instead you secrete the phosphates in your urine.

      This brings me to the test. You will need to collect your urine over a 24 hour period. It can then be tested to see if you have high levels of phosphates in your urine. If you do then it’s very likely you will be joining us.

      The treatment is simple. You take supplements of calicitiol and phosphates. Over time your bone will harden and the fractures will stop. How long depends on how badly you have it.

      I have been taking the supplements for about 10 years now and although the fractures have stopped it did a lot of damage to my spine and this is giving me problems still.

      I was diagnosed by a rheumatologist so you might like to see one locally and see what they say.

      I hope this helps and wish you all the best for the future. Please use this again if you want to chat more.

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    • Posted

      Jeff good luck with this diagnosis what cator said was very accurate. I feel this condition goes very underdiagnosed. I've been dealing with symptoms for 15 years and diagnosis for 14 I think the doctor that diagnosed me was an endocrinologist and I see 2 endocrinologist at the national institute of health in Bethesda Maryland. Right now I am on an experimental chemo the hope was it would calcify the tumor and make it easier to find I have been on for almost 2 years. It has kept the fgf hormone down and phosphorus level up. It has even affected my sugar levels and cholesterol. But the side effects are insane. There is so much still unknown with this condition. I couldn't even begin to tell you how many fractures j have had erosion of my wrists compression fractures in my spine. I have managed to stay out of a wheel chair but it has not been an easy battle. I also named my tumor so when I get really down about I can yell at it. Sounds pretty silly but it has been therapeutic for me. Again good luck.

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    • Posted

      Hi Jeff,

      I know it’s easy to say but being positive helps a lot. I admit I am taking Citalopram to help keep me positive. It’s not heavy and just takes the edge off things so have a chat with your GP and see if they can help. There is nothing worse than being in pain and being depressed. If you can accept that this is a long term thing you can then develop coping strategies. Life then begins to look somewhat better and it becomes easier to cope.

      Its reassuring to me when I read other people’s posts that they have had the same or similar symptoms. You realise that you are not alone and you are not going mad.

      In these situations your mind can either be your best friend or your worse enemy.

      Be positive and make it your friend.

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    • Posted

      Hello Jeff. I too have been dealing with hypophosphatemia and osteomalacia that has produced numerous stress fractures throughout my body. For me this began about 3 years ago and came on all of a sudden. It steadily progressed to the point where I was virtually immobile and could not leave my house on my own for a year. During that time I had seen several doctors. They ran all kinds of tests and scans, genetic tests, cancer tests, etc. all came back negative. My endo did find that my vitamin D, calcium, and phosphorus were low, and that I was wasting phosphorus through my urine (within the normal range but on the high end) so I've been on Calcitriol and Virt-Phos for some time to bring those back up. I will say that they have made a significant difference in the pain I had felt for so long. I could tell the fractures were healing as I was no longer getting those sharp sudden stabbing pains that are just debilitating. He was stumped as to what was causing it. Liver tests, kidneys, etc. came back normal as well. He then tested the FGF23 levels (blood test) to look for tumor induced osteo but that came back normal as well. 

      Since he had done all he knew to do and was admittedly not an expert on the condition, I went to see a sub-specialist at a medical university. After reviewing my case, she advised me to arrange for a PET/CT scan to look for a tumor and stated the blood test for FGF23 is not always conclusive. I had that done this past February and they did in fact find a "soft tissue nodule" (+/- 11mm x 22mm) just above my left suprapatellar recess (left knee area). She said that there have been cases of TIO presenting in that area before and has recommended a biopsy to either confirm or rule it out. I have an appointment scheduled next week with an orthopedic oncologist to discuss and hopefully arrange to have it done as soon as possible. 

      All this being said, I know what it's like to go through this and how frustrating and depressing it can be. I'm 48 years old and have had a healthy life before this began. To all of a sudden be sidelined by something that most doctors have never even heard of can be extremely scary. Throughout I've tried to be strong for my family. I've tried to act like it was no big deal and that it will fix itself in no time. I didn't want them to worry like I was doing on the inside. I was stubborn. I didn't want help from them, to do things for me, for me to feel like a burden.  I wanted things to be back the way they were and I felt guilty that I was the one keeping us from being able to take our vacation, or even do simple things like go out to dinner or the movies. I was missing soccer games and school events. It was horrible. But I tried my best to keep my frustration inside. It wasn't always possible and there were a few times where I just broke down and couldn't stop crying, all in private of course.

      One thing I've learned though, and I don't mean this to sound cliche, is that it is truly up to us how we deal with this and it will have an affect on us and our family. No one will take it more seriously and place more of a priority on figuring out the cause and getting it treated more than ourselves. With that, it is up to each of us to do everything we can to help educate the doctors and figure this out. Take control and remain positive because it will get better! 

       

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    • Posted

      Hi Jason,

      I just read your account, it’s so similar to mine but I am a few years further on. I have found the calcitriol and phosphate supplements have, in time, stabilised my bone.

      One big problem is the lack of knowledge by the doctors who treat you so I have now designed a simple guide to the condition and I give a copy to every new doctor.

      This serves two purposes,

      1. It tells the doctor in simple terms how the rumour affects the making of bone and how it does it. Plus, how it affects me.

      2. And this is most important, how they read it shows if they are interested or not. Those who just glance at it are likely to be the ones who fob you off with anything.

      Those that read it properly are the ones who are likely to listen to you and suggest constructive ways forward.

      I hope this helps.

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    • Posted

      They found the tumor, it's on my face under my left eye, and is big like a strawberry. This worries me a lot. If its touching the brain they don't want to remove it.

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    • Posted

      First off congratulations on finding it. That is the biggest part of the battle. I don't have words of wisdom on not being scared. I understand the feeling of a lot of good it does to find it if they can't remove it. But finding it is a huge blessing I wish you all the best on getting it removed. And if someone says they don't feel comfortable removing it keep looking there is always another Dr and someone will have the confidence to take it out.

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