Case Report: Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome, Galán et al (2015)

[Arnie Pye]

Title : Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome

Link : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748504/

Abstract
Introduction. Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can easily be mistaken.

Methods. We report the case of a patient diagnosed with CFS and during follow-up was finally diagnosed with mitochondrial myopathy by histochemical study of muscle biopsy, spectrophotometric analysis of the complexes of the mitochondrial respiratory chain, and genetic studies.

Results. The results revealed 3% fiber-ragged blue and a severe deficiency of complexes I and IV and several mtDNA variants. Mother, sisters, and nephews showed similar symptoms, which strongly suggests a possible maternal inheritance. The patient and his family responded to treatment with high doses of riboflavin and thiamine with a remarkable and sustained fatigue and muscle symptoms improvement.

Conclusions. This case illustrates that initial symptoms of mitochondrial disease in adults can easily be mistaken with CFS, and in these patients a regular reassessment and monitoring of symptoms is recommended to reconfirm or change the diagnosis.

Keywords: chronic fatigue syndrome, myalgic encephalomyelitis, mitochondrial myopathy, occipital neuralgia, riboflavin therapy

This paper is Open Access

Edit : Spacing

 

[Hutan]

Spanish report

Therefore, the patient appeared to meet the CDC-1994/Fukuda criteria for CFS,1 and the diagnosis of CFS was made. He was treated for 1 year with cognitive behavioral therapy, graded exercise therapy, and antidepressants, finding very slight improvement, and the headache did not respond to triptans or ergot alkaloids and responded only partially to nonsteroidal anti-inflammatory drugs.

As recommended, patients with ME/CFS require a regular reassessment and follow-up of symptoms (annually) to reconfirm or change the diagnosis. Therefore, we followed the patient for several years paying attention to the emergence of new symptoms and signs.

Mitochondrial genome sequencing in blood sample was performed using the Sanger method, which revealed several mtDNA variants (A750G, T1189C, and A1438G) (Sistemas Genómicos, Valencia, Spain).

In our patient, treatment started on a regimen of a combination of riboflavin (100 mg 3 times per day) and thiamine (300 mg/day). During the first month of treatment, the patient started a marked and sustained improvement, which continues (5 years later) in the tiredness, impairment in short-term memory and concentration, muscle weakness, cramping in muscles after exercise, and the patient can now perform exercise, such as bicycling.

Mitochondrial DNA variants (A750G, T1189C, and A1438G) found in this patient have been reported in patients with idiopathic sensorineural hearing loss; however, the pathogenicity of these variants should be established, as well as the appearance in people with normal hearing, in order to define its possible correlation with NSHL additional and/or aminoglycoside-induced HL.12

In conclusion, this case can be useful to illustrate that initial symptoms of mitochondrial diseases in adults can easily be mistaken with CFS and it is recommended that these patients have a regular reassessment and follow-up (annually) of symptoms to reconfirm or change the diagnosis. In addition, large doses of riboflavin and thiamin are also suggested as a treatment option, which can alleviate some of the clinical symptoms in adults.

 

[Arnie Pye]

As recommended, patients with ME/CFS require a regular reassessment and follow-up of symptoms (annually) to reconfirm or change the diagnosis.

I have never heard of the above happening in the UK. Has anyone else ever had annual reassessment and follow-up of symptoms for any long term health condition? I haven't.

 

[Hutan]

Very interesting, thanks Arnie Pye.

It's sad to hear about the standard treatment for ME/CFS there in Valencia. But yes, at least this man's doctors remained alert for symptom changes and did do a lot of testing, including the genetic testing.


I think my symptoms could be written up to almost exactly match those of this man, and my son's too. And I have the hearing loss in one ear and proximal muscle weakness. But I think many people here have a similar constellation of symptoms, so I don't know.

I don't know how definitive those mitochondrial DNA variants are - this man's symptoms sounded very very much like ME/CFS. And I'm not entirely convinced that the vitamin regime was as curative as it is presented here. But, perhaps it is time to go in to battle with my GP again and try to get some genetic testing. Perhaps there is a way to get it done privately.

 

[Ash]

Very interesting @Arnie Pye thank you.

They did lots of testing that most of us would be denied if we requested it and certainly would not be offered it.

They found organic pathology in one guy diagnosed with CFS who had all those symptoms their profession likes to label “vague” “non specific” and suggestive of “unexplained by organic pathology” fished him out of the CFS dustbin and started studying him, bio medically. Found organic pathology. Treated him. He got a better life.



But they still concluded that there is overlap with psychosomatic disorders and CFS. How can they know this?
Without fishing every man woman and child out of that stagnant pond how can they say anyone belongs there?

 

[Ash]

I have never heard of the above happening in the UK. Has anyone else ever had annual reassessment and follow-up of symptoms for any long term health condition? I haven't.

But only because I feel like crying…