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Adult Hypophosphatasia

Posted , 20 users are following.

Elderberry
Elderberry

Hello is there anyone out there in the UK with adult Hypophosphatasia. If so I would be grateful to hear from you as I am searching for support and answers. Many thanks.

Elderberry.

0 likes, 48 replies

48 Replies

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  • juliana14
    juliana14

    Posted

    Hi Petal4,

    Snap! Yes, fatigue and also autoimmune thyroiditis. I'm not sure that the fatigue is due to the hypophosphatasia (HPP) though although many people do complain of fatigue. I think its hard to prove the connection, especially being hypothyroid which also cause a slowing down of everything. I suppose its worth making sure the thyroid is being correctly treated. If you are being treated by the TSH alone for this then its worth bearing in mind that the UK reference range of 'normal' is much higher than many countries and there is a debate that anything over 2.5 should be treated. Do you know your T4 & T3 levels?

    Re the vit D, I hope your doctor is monitoring your calcium and phosphate as vit D can raise these and in HPP it is very important to keep these as close to normal as possible. Vitamin D is usually contraindicated although I take a low dose but have it monitored every 3 months.

    This website may be of interest if you haven't already spotted it:

    http://www.hypophosphatasia.com/sources-support/rare-disease-organizations

    All the best to you.

  • Elderberry
    Elderberry

    Posted

    Hello Petal

    I too have fatigue. I think is due to the constant pain. I don't get the fractures but I get build ups of calcium on my bones and down my tendons. I have had two operations to remove 8mm hooks this year. I also have adult hypophosphatasia. It would appear there are many different variations in symptoms. I agree that the link to the above site given by Juliana is great. I don't know of anything in the UK as yet although I have just been taking part in some research into the effects of HPP on my daily life by Alexion. Best wishes to you all.

    • kimcon
      kimcon Elderberry

      Posted

      Hello. How were you diagnosed with hypophosphatasia as an adult?
    • kimcon
      kimcon Elderberry

      Posted

      Why did you have 8 mm hooks? Has this been very painful and progressive for you? Sounds like it is.
  • Cator1956
    Cator1956 Elderberry

    Posted

    Hi,

    i have hypophosphatemic osteomalacia and looking on line these seem to be similar in many ways. I am in the UK. I don't know about you but I find most doctors have never heard of this.

    How is it affecting your daily life? Mine is badly disrupted and I am unable to work.

    • kimcon
      kimcon Cator1956

      Posted

      Are you not able to work because of the pain? Brain fog? Internal organ problems? I read all these scary things that can go wrong. I am so very  sorry you are suffering. If I may ask, how did they diagnose you? 
    • Cator1956
      Cator1956 kimcon

      Posted

      I am not able to work due to the pain, broken bones, fatigue and there is a certain amount of brain fog. I have had over 20 fractures in the last few years but now my problems are mainly spinal and related to damage done before I was diagnosed. I have had 5 lumbar operations and now 2 more on my neck. This is due to damage of the vertebrae. They have not cured it so I am now waiting yet another MRI so they can see what is happening. There is the possibility of more operations plus I have now been referred to orthapeadics as my shoulders are giving problems.

      if you look back on the hypophosphatemic osteomalacia thread I have given a short explanation of what I believe this cursed bone condition does and the mechanics of it.

    • kimcon
      kimcon Cator1956

      Posted

      I was told at this point I have a mild version of HPP. The fatigue and pain is a problem. But the pain isn't severe. When did your symptoms start and has this disease been progressive? I read 1 out 3 will need devices to walk.

      I'm sorry you are suffering. I'd like to know truthfully what I could expect to happen to me physically. And I will look into RUDY. Thank you so much.

  • kimcon
    kimcon Elderberry

    Posted

    Well, I have been experiencing symptoms that mimic MS and Fibromyalgia. I even had a lumbar puncture and brain mris.  Nothing was conclusive. My friend suggest I go back to my rheumy and she said my symptoms look just like Fibro. But there's another rare disease that mimicks the symptoms. So I had blood work and I have low alkaline phosphate (32) and high Vitamin B 6. I was referred to an doctor at UCLA who has taken an interest in the rare condition.
  • Elderberry
    Elderberry

    Posted

    Hello all

    there is now the RUDY study in the UK.  It is researching a lot of rare bone diseases in the UK.  Have a look at the link https://research.ndorms.ox.ac.uk/rudy/home

    it would be wonderful if you were able to sign up.  Especially HPP patients as we are short on numbers for the study 

    all the best

    elderberry

  • andrew17396
    andrew17396 Elderberry

    Posted

    I have a reduced ALP which is always about half of the lower limit of normal.  I don't have any problems (over and above the aches and pains of any other 57 yr old man) and still have teeth.  I would be interested to know peoples ALP levels on here as googling has not provided me with representative values in Adult HHP.  Not sure whether I have a condition and whether my children need screening for it.
    • michael24940
      michael24940 andrew17396

      Posted

      27 year old male, ALP is down to 17 and Vitamin B up to 124 (ref range 5-50)
    • lisa14551
      lisa14551 andrew17396

      Posted

      Hi. Have alk ph of 18. Just got genetic testing and came up that I was positive for hpp (paraphrasing...gene info in depth). I have mostly implants in my mouth and I have had calcium deposits in my upper arms and is removed by tenex procedure. So far, twice in each arm. My son has same gene and has hpp. My other son not. So...we will see how things go. Mostly worried calcium may build up in other places. Any info?? Thanks. Lisa
    • michael24940
      michael24940 lisa14551

      Posted

      Hi Lisa,

      You should reach out to Dr. Michael P. Whyte in the U.S. (St. Louis to be exact).  He is currently the worldwide HPP expert, I will be seeing him within the next few weeks to discuss my recent diagnosis.  

  • vicky50822
    vicky50822 Elderberry

    Posted

    So glad I came across this, I have fibro and joint hypermobilty syndrome, I have struggled for years and am now in a bad way. Saw the rheumatologist last November and he was less thanhelpful! Saturday I got a letter from him telling me he had reviewed my notes and from 2009 to 2015 over 5 blood tests my alkaline phosphate has been low, I have since sent off blood and urine and am waiting for results, he said in the letter its nothing to worry about if I have genetic hypophosphatasia but from what I read it doesn't seem that way. I have chronic hip, knee and foot pain, I have had 3 ops on my shoulder in the last year now my right one is bad and expecting the same treatment. Im in uk
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