Investigating Fatigue and Exercise Intolerance in a University Immunology Clinic

SWAlexander

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Abstract
Purpose: This manuscript reviews the experience of a University Immunology clinic with the evaluation of patients with idiopathic fatigue and exercise intolerance for the presence of metabolic disorders. Laboratory, biochemical and genetic studies were utilized in the evaluation. Recent Findings: Of the 372 patients evaluated, 95% were found to have a treatable metabolic disorder. A defect in the glycogen storage pathway was found in 78 patients. Mitochondrial disorders were found in 258 patients. Myoadenylate deaminase deficiency was found in 7 patients. Various congenital myopathies were identified in 11 patients. Inflammatory myopathies were identified in 25 patients, 6 of whom had normal muscle enzymes on the initial evaluation. Summary: The majority of patients (95%) referred with idiopathic fatigue and exercise intolerance after extensive evaluations were found
to have underlying metabolic dysfunction. Frequently associated problems included gastrointestinal dysmotility disorders, recurrent infections, Raynaud’s, migraine headaches and various autoimmune diseases. Most patients showed symptomatic improvement with treatment of their metabolic dysfunction.

Paper PDF: https://irispublishers.com/arar/pdf/ARAR.MS.ID.000505.pdf
The same content in the article explains "The focused on metabolism because metabolic processes produce the adenosine triphosphate (ATP) used to power our cells: https://www.healthrising.org/blog/2...unction-treatment-mitochondrial-fibromyalgia/
 
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pattismith

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I wish we could be offered such an opportunity to check for these diseases!

Recent Findings: Of the 372 patients evaluated, 95% were found to have a treatable metabolic disorder. A defect in the glycogen storage pathway was found in 78 patients. Mitochondrial disorders were found in 258 patients.
All of the patients were referred with fatigue and exercise intolerance. Eighty-one percent of the patients carried a diagnosis of fibromyalgia given them by an Internist or Rheumatologist. Eleven percent of the patients were labeled as having difficult to treat depression. Eighteen of the patients (5%) had significant dyspnea, the cause for which could not be identified and was felt to be secondary to respiratory muscle dysfunction
 

SWAlexander

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"People with hypoxia-producing diseases, for instance, can develop secondary mitochondrial dysfunction as a result of oxygen deprivation. People with sepsis can develop “multiple secondary metabolic disorders”. Chronic inflammation can damage the mitochondria where the inflammation is occurring."

The fat marked is me for sure.
This is from my DNA:
One hypothesis is that rs747650 may be an eQTL involved in transcriptional regulation, based on ENCODE data indicating a peak density of DNAse hypersensitivity, histone marks and transcription factor ChIP overlapping this locus. He et al. speculates that a neighboring gene DDB2 is a potential candidate gene for acne susceptibility based on its implication in androgen metabolism and inflammation.

Further on metabolic disorder from my DNA magnitude 2.5: MTHFR rs1801131 is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T, this mutation does not lead to elevated homocysteine levels. The corresponding odds ratio for glioma was 1.23 (CI: 0.91-1.66, p=0.02. In general, risks were increased with genotypes associated with reduced MTHFR activity.

I´m reporting details: https://forums.phoenixrising.me/threads/reporting-improvement.85697/
 
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jpcv

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I this is a very provocative and interesting paper.
Although it does not use any Criteria for ME/CFS , its patients clearly had many similarities with pwME/CFS.
I suspect many patients described with FibroMyalgia in the study cohort in reality suffer from ME.
I also liked how they structured the diagnostic approach, the exams used, some of whom I had never heard of ,like the forearm ischemic test.
I will discuss this approach with my neurologist; interestingly enough, in my last appointment he said very superficially that maybe we should consider a muscle biopsy and a exome test.