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Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy (…) from Patients with [CFS], Bermejo-Guerrero et al, 2023

Discussion in 'ME/CFS research' started by cassava7, Mar 28, 2023.

  1. cassava7

    cassava7 Senior Member (Voting Rights)

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    Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

    Authors from the Neuromuscular Disorders Unit of the Hospital Universitario 12 de Octubre in Madrid (national reference center of rare neuromuscular diseases in Spain)

    Abstract

    Primary mitochondrial myopathies (PMM) are a clinically and genetically highly heterogeneous group that, in some cases, may manifest exclusively as fatigue and exercise intolerance, with minimal or no signs on examination. On these occasions, the symptoms can be confused with the much more common chronic fatigue syndrome (CFS).

    Nonetheless, other possibilities must be excluded for the final diagnosis of CFS, with PMM being one of the primary differential diagnoses. For this reason, many patients with CFS undergo extensive studies, including extensive genetic testing and muscle biopsies, to rule out this possibility.

    This study evaluated the diagnostic performance of growth differentiation factor-15 (GDF-15) as a potential biomarker to distinguish which patient with chronic fatigue has a mitochondrial disorder. We studied 34 adult patients with symptoms of fatigue and exercise intolerance with a definitive diagnosis of PMM (7), CFS (22), or other non-mitochondrial disorders (5).

    The results indicate that GDF-15 can accurately discriminate between patients with PMM and CFS (AUC = 0.95) and between PMM and patients with fatigue due to other non-mitochondrial disorders (AUC = 0.94). Therefore, GDF-15 emerges as a promising biomarker to select which patients with fatigue should undergo further studies to exclude mitochondrial disease.

    https://www.mdpi.com/2077-0383/12/6/2435
     
    Last edited by a moderator: Mar 28, 2023
  2. cassava7

    cassava7 Senior Member (Voting Rights)

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    The authors did not specify which CFS diagnostic criteria they used, if any. Below is their description of CFS:
     
  3. Andy

    Andy Committee Member

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    Perhaps in Spain but not in the UK.

    They don't explain what criteria was used to diagnose the ME/CFS patients.

    (Cross posted with Cassava)
     
  4. Hutan

    Hutan Moderator Staff Member

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    We've seen high GDF-15 implicated in hyperemesis in pregnancy and also in severe ME/CFS - more here. This Spanish study makes no reference to the paper that found high levels of GDF-15 in severe ME/CFS patients. That finding might cast doubt on the conclusion the authors of this study make:

    Here are the levels found by the 2019 ME/CFS study:
    So, perhaps it is true that levels of GDF-15 in ME/CFS patients are not as high as in PMM patients. It's possible that the techniques for measurement were different, and so the levels aren't comparable between studies.

    I wonder why these Spanish authors didn't comment on the Lacerda study.
     
    Last edited: Mar 28, 2023
  5. Hutan

    Hutan Moderator Staff Member

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    Location:
    Aotearoa New Zealand
    GDF-15.png
    There's the results of the GDF-15 levels in this study (the boxes are the interquartile range). Clearly some of the patients with a CFS diagnosis also had levels of of GDF-15 over 1100 pg/ml, and some patients with PMM had levels below 1100 pg/ml.


    I thought the findings of the electrophysiological studies were interesting:
    Of the 17 CFS patients, 5 had electrophysiological studies deemed myopathic. That's not insignificant or inconsequential I would have thought, but it isn't commented on. I can't recall what other electrophysiological studies in ME/CFS have found.
     

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