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Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia? A Retrospective Single-Center Study 2023 Injean et al

Discussion in ''Conditions related to ME/CFS' news and research' started by Andy, Sep 5, 2023.

  1. Andy

    Andy Committee Member

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    Location:
    Hampshire, UK
    Abstract

    Objective
    Hypophosphatasia (HPP) is a rare disease characterized by incomplete or defective bone mineralization due to a mutation in the alkaline phosphatase (ALP) gene causing low levels of ALP. Disease presentation is heterogeneous and can present as a chronic pain syndrome like fibromyalgia (FM). Our objective was to determine if there are any potential patients with HPP in the group of patients who were diagnosed with FM. Antiresorptive therapy use can trigger atypical femur fractures in patients with HPP.

    Methods
    We performed a retrospective chart review of all patients 18 years or older at a single academic center who were diagnosed with FM and had either a low or a normal ALP level. The following characteristics were reviewed: biological sex; age; history of fractures; diagnosis of osteoporosis, osteopenia, osteoarthritis, and chondrocalcinosis; genetic testing; vitamin B6 level testing; and medications.

    Results
    Six hundred eleven patients with FM were identified. Two hundred had at least one low ALP level, and 57 had at least three consecutively low measurements of ALP, 44% of which had a history of fractures. No patients had vitamin B6 levels checked. None of the patients had previous genetic testing for HPP or underwent testing for zinc or magnesium levels.

    Conclusion
    The percentage of patients with FM who were found to have consistently low ALP levels was 9.3%. None had vitamin B6 level or genetic testing, suggesting that the diagnosis was not suspected. It is important to diagnose HPP given the availability of enzyme replacement therapy to prevent complications from HPP such as fractures. Our data support screening for this condition as a part of the initial workup of FM.

    Open access, https://acrjournals.onlinelibrary.wiley.com/doi/10.1002/acr2.11591
     
    Jacob Richter, Kitty, Hutan and 2 others like this.
  2. Ash

    Ash Senior Member (Voting Rights)

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    That great for the people who were identified as having this condition isn’t it, they otherwise would of languished until complications really escalated and probably even after that.
     
    Kitty likes this.
  3. Hutan

    Hutan Moderator Staff Member

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    No particular person was identified as having HPP; the authors were working with de-identified data. They are just saying, we looked at some medical records, and a substantial number of people warrant further investigation for HPP.

    This sounds important. Here's a genetic disease that can be clearly diagnosed and treated, but people are not being given the appropriate screening. From the symptoms listed, there are probably people diagnosed with ME/CFS who have this condition too.

    It looks like this is something that deserves more studies.

    @Andy, @Chris Ponting, @Simon M - 'a mutation in the alkaline phosphatase (ALP) gene causing low levels of ALP'. There could be an interrogation of the DecodeME data to see if there are possibly misdiagnosed people in the sample.
     
    Last edited: Sep 6, 2023
    Andy, Trish, obeat and 3 others like this.
  4. Ash

    Ash Senior Member (Voting Rights)

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    Thanks @Hutan. I only read conclusion of above post. I hope these study results get out and patients start demanding genetic testing. I know there isn’t capacity but only way to increase it is like loud demand.
     
    Last edited: Sep 6, 2023
    Kitty and Hutan like this.
  5. Hutan

    Hutan Moderator Staff Member

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    Yes. From the paper, it looks as though there are ways to stage the testing, and genetic testing isn't strictly necessary. But it does sound as though screening for this condition in people who present with fibromyalgia (and probably ME/CFS with muscle pain) would be useful.
     
    Michelle, Trish, Kitty and 1 other person like this.
  6. Sean

    Sean Moderator Staff Member

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    Location:
    Australia
    I have the opposite, consistently high ALP every time it has been measured since I got ME.

    The most consistent (abnormal) lab finding in my medical history.
     
    Michelle, Kitty, Hutan and 1 other person like this.
  7. Ash

    Ash Senior Member (Voting Rights)

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    I don’t know what ALP is really having only just been prompted to think about it. Why do Drs order tests for it generally?
     
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  8. Hutan

    Hutan Moderator Staff Member

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    https://medlineplus.gov/lab-tests/alkaline-phosphatase/
     
  9. Kitty

    Kitty Senior Member (Voting Rights)

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    I was diagnosed with this, but as far as I know it's the form that only affects teeth. It was suspected when I started losing some of my permanent teeth in my teens.

    I'm going back decades, so there were no genetic tests, only X-rays. I've only become aware comparatively recently that there are other types; for most of my life I just thought it was a weird dental condition that my dad and I had.
     
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  10. Chris Ponting

    Chris Ponting Established Member (Voting Rights)

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    Location:
    Edinburgh
    Thanks. We've looked in UK Biobank data and don't see low alkaline phosphatase levels on average. If anything it might be slightly higher.
     
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  11. Hutan

    Hutan Moderator Staff Member

    Messages:
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    Location:
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    If only 1 in 6000 people have the HPP condition, then there probably won't be many people diagnosed with ME/CFS who actually have HPP. So, of course, they may not have much impact on the average ALP levels in people in the UK Biobank with an ME/CFS diagnosis. But, finding those people could make a big difference to them.

    It is interesting that 200 of the 611 people with a diagnosis of fibromyalgia in this sample had at least one low level of ALP. It would be good to know the distribution of individual ALP values in people diagnosed with ME/CFS (and fibromyalgia) in the UK biobank - are there some people with low levels and some with high levels?


    High levels of ALP seem to be associated with liver disease and some infections. I guess it's possible that someone might have fatigue as a result of liver disease (e.g. a hepatitis) and be diagnosed with ME/CFS - and so might inflate the average. That note from Medline that I quoted above was interesting - suggesting that high ALP can be a sign of mononucleosis (caused by EBV) - could some people with ME/CFS be having intermittent reactivations that affect the liver?


    (My ALP levels have been resolutely normal. I doubt ALP has much to do with ME/CFS.)
     
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