Investigating Fatigue and Exercise Intolerance in a University Immunology Clinic, 2020, Ambrus et al

[Dolphin]

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https://irispublishers.com/arar/ful...ise-Intolerance-in-a-University.ID.000505.php
Archives of Rheumatology & Arthritis Research - ARAR
ISSN: 2694-1724

Case Report
Investigating Fatigue and Exercise Intolerance in a University Immunology Clinic
Julian L Ambrus1*, Paul Isackson2, Molly Moore3, John Butsch3 and Lucia Balos4

1Departments of Medicine, SUNY at Buffalo School of Medicine, USA

2Department of Pediatrics, SUNY at Buffalo School of Medicine, USA

3Department of Surgery, SUNY at Buffalo School of Medicine, USA

4Department of Pathology, SUNY at Buffalo School of Medicine, USA

Corresponding Author


Received Date: January 31, 2020; Published Date: February 18, 2020



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.

Keywords: Carnitine palmitoyl transferase; Mitochondria; Glycogen Storage Disease, Myoadenylate Deaminase, Asthma; Sjogren’s syndrome; Raynaud’s; Gastrointestinal dysmotility

 

[Helene]

Oh good! I searched a few days ago to see if this report had been discussed on S4ME.

Thinking there are going to be some questions on what they based the outcomes.

Note that the 372 patients evaluations were spread out over a 20 year period.

Just maybe helps explain why some people with ME find a certain supplement or dietary change helpful while most others don't? But with the presumably subjective outcomes maybe this is a stretch?

 

[borko2100]

As we will describe below, 95% of these patients were found to have some form of treatable metabolic dysfunction.

That number sounds pretty shocking to me. If this is generalizable does this imply that 95% of people with CFS/ME are actually misdiagnosed? I have yet to read this paper in detail, but it seems to me there is something in their methodology that doesn't make this number generalizable to your average CFS/ME patient.

 

[Kitty]

That number sounds pretty shocking to me. If this is generalizable does this imply that 95% of people with CFS/ME are actually misdiagnosed?

No; as far as I can see, none of the patients was diagnosed with ME/CFS. However, 81% had a fibromyalgia diagnosis.

Given appropriate testing, it wouldn't surprise me if a small proportion of ME patients did have some kind of metabolic disorder. It would be fantastic to see detailed screening to rule out other diagnoses being offered at the shiny new ME clinics we're hoping for...

I can dream, can't I?

 

[5vforest]

Surprised there isn’t more discussion on this. They’re making an extremely big claim, that 95% of patients w CFS diagnosis had a treatable metabolic disorder.

However it looks like the treatment was stuff like coq10, folic acid, ALA, etc that many patients have probably already tried.

I’m curious where the disconnect is. And should I try to get tested for the various metabolic disorders mentioned in the paper?

Also… patients improved with treatment, but where did they define “improved”?

 

[Kitty]

They’re making an extremely big claim, that 95% of patients w CFS diagnosis had a treatable metabolic disorder.

They're not claiming this, though. The patients were referred to the clinic with idiopathic fatigue and exercise intolerance; none of them appear to have been diagnosed with ME/CFS prior to referral, and the study doesn't suggest that any were found to have ME/CFS after testing.

The interesting thing is that some of these disorders appear to have been acquired, rather than present from early life due to genetic changes. If correct, it shows how important it is to conduct thorough investigations when patients present with these symptoms.

 

[5vforest]

none of them appear to have been diagnosed with ME/CFS prior to referral

hm, you are right, sorry. It looks like there is a massive symptom overlap though. They all have PEM

 

[Jonathan Edwards]

I have only read the abstract but I don't think this should be taken seriously. I have never heard of the journal which looks like a garbage bag online outfit (the blurb reads as if written by someone who knows nothing about medicine) The figures claimed for glycogen storage make no sense since glycogen storage problems are very rare.

I am afraid I think this reflects the fact that there is no longer any easy way to distinguish real medicine from alternative in the USA and in the publishing world.

 

[Kitty]

The figures claimed for glycogen storage make no sense since glycogen storage problems are very rare.

I wondered about that – 78 people with such rare disorders being referred to one clinic does seem surprising.

 

[jpcv]

They're not claiming this, though. The patients were referred to the clinic with idiopathic fatigue and exercise intolerance; none of them appear to have been diagnosed with ME/CFS prior to referral, and the study doesn't suggest that any were found to have ME/CFS after testing.

The interesting thing is that some of these disorders appear to have been acquired, rather than present from early life due to genetic changes. If correct, it shows how important it is to conduct thorough investigations when patients present with these symptoms.

I agree, I think the authors did a in depth study of fatigue and exercise intolerance , another positive points are the number of patients and the time span of the sudy.
I have "atypical" ME, meaning that I had some similar, less intense symptoms such as muscle pain and ftigue following exercise during early adulthood and I didn´t develop full blown ME after an infection.So the diagnostic approach used in the study is very interesting for me.