Thursday, February 16, 2012

Mitochondrial myopathy presenting as fibromyalgia

Mitochondrial myopathy presenting as fibromyalgia: a case report
Mishal Abdullah, Sahana Vishwanath, Amro Elbalkhi and Julian L. Ambrus
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Journal of Medical Case Reports 2012, 6:55 doi:10.1186/1752-1947-6-55
Published: 10 February 2012
Abstract (provisional)
To the best of our knowledge, we describe for the first time the case of a woman who met the diagnostic criteria for fibromyalgia, did not respond to therapy for that disorder, and was subsequently diagnosed by biochemical and genetic studies with a mitochondrial myopathy. Treatment of the mitochondrial myopathy resulted in resolution of symptoms. This case demonstrates that mitochondrial myopathy may present in an adult with a symptom complex consistent with fibromyalgia.

Case presentation
Our patient was a 41-year-old Caucasian woman with symptoms of fatigue, exercise intolerance, headache, and multiple trigger points. Treatment for fibromyalgia with a wide spectrum of medications including non-steroidal anti-inflammatory drugs, antidepressants, gabapentin and pregabalin had no impact on her symptoms. A six-minute walk study demonstrated an elevated lactic acid level (5mmol/L; normal <2mmol/L). Biochemical and genetic studies from a muscle biopsy revealed a mitochondrial myopathy. Our patient was started on a compound of coenzyme Q10 (ubiquinone) 200mg, creatine 1000mg, carnitine 200mg and folic acid 1mg to be taken four times a day. She gradually showed significant improvement in her symptoms over a course of several months.

This case demonstrates that adults diagnosed with fibromyalgia may have their symptom complex related to an adult onset mitochondrial myopathy. This is an important finding since treatment of mitochondrial myopathy resulted in resolution of symptoms.

The complete article is available as a provisional PDF. The fully formatted PDF and HTML versions are in production.

Mitochondrial myopathies are disorders characterized by morphological abnormalities of
muscle mitochondria. Accumulating evidence suggests that mitochondrial disorders are
among the most common inherited metabolic diseases [10]. Similar to fibromyalgia,
patients may present with muscle weakness, pain, fatigue and exercise intolerance that
progressively worsens over time.
Several steps are involved in Adenosine-5'-triphosphate (ATP) generation in the
mitochondria, and defects in any part of the cycle may impair energy production leading
to symptoms [11]. These abnormalities in generation and utilization of ATP can be
assessed by specific tests, which as in our patient pointed towards problems in energy
metabolism [12].

Genetic testing with sequencing of the mitochondrial genome and
chromosomal genes affecting mitochondrial function may also be pursued, as was
performed in our patient. Mutations in POLG1 and several mitochondrial genome
polymorphisms were noted. our patient was started on a regimen of coenzyme Q10 (Co-Q10;
ubiquinone), creatine, carnitine, folic acid and α-lipoic acid. Co-Q10 transports electrons
between complex I and complex III of the mitochondrial respiratory chain and has been
shown to improve mitochondrial function in several studies [13]. Creatine generates
additional ATP through the creatine phosphate shuttle. Carnitine enhances transport of
fatty acids into the mitochondria. Folic acid is a cofactor for several mitochondrial
enzymes, while α-lipoic acid is a strong antioxidant [14]. Although this treatment
regimen was started several years after symptom onset, within the first few months our
patient showed tremendous improvement. With continued therapy, her complaints
dissipated over several months, with a gradual but sustained resolution of all symptoms.


Tony Mach said...

Dr. Speedy, how do you control for spontaneous remission in a n=1 case study?

Dr Speedy said...

Hi Tony,

someone with a genetic abnormality which causes a biochemical measurable abnormality, demonstrating
that there is a mitochondrial problem, will not go into spontaneous remission.


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