Mitochondrial Myopathy Presenting as Fibromyalgia
Mitochondrial Myopathy Presenting as Fibromyalgia
Introduction: 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 (5 mmol/L; normal < 2 mmol/L). Biochemical and genetic studies from a muscle biopsy revealed a mitochondrial myopathy. Our patient was started on a compound of coenzyme Q10 (ubiquinone) 200 mg, creatine 1000 mg, carnitine 200 mg and folic acid 1 mg to be taken four times a day. She gradually showed significant improvement in her symptoms over a course of several months.
Conclusions: 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.
Fibromyalgia is a condition characterized by chronic widespread pain and fatigue which affects approximately 2% of the US population. The diagnostic criteria include pain lasting for longer than three months on both sides of the body, involving the upper and lower halves of the body, and presence of at least 11 out of 18 specific tender points over the body.
Over the years, several pathogenic mechanisms for the condition have been postulated but the exact pathogenesis still remains a mystery. Historically, disordered sleep, circadian rhythm abnormalities, and hormonal imbalance have been looked upon as potential causes, but whether these factors are important in the pathogenesis, or merely arise secondary to bodily stress remains unclear. Alteration in pain modulatory neuropeptides is another widely studied hypothesis, but several studies have shown variable results with no definitive conclusion. Finally, another more recent theory is the presence of underlying muscle metabolic disease that leads to abnormalities in high-energy phosphate metabolites. Other postulated causative explanations include genetic abnormalities, psychiatric disorders, and environmental stressors.
Furthermore, due to our lack of understanding of this condition, treating fibromyalgia has always been a challenge for most clinicians. Subsequently, several different groups of medications have been tried over the years. Historically, tricyclic antidepressants have been the most commonly used medications and although short-term studies did show some benefit in some patients, long-term prospective studies failed to reveal any significant effect.
Other medication groups used to treat fibromyalgia include selective serotonin reuptake inhibitors (SSRIs) and serotonin-norepinephrine reuptake inhibitors (SNRIs), anticonvulsants, opioid analgesics, sedatives, hypnotics and anti-inflammatories, and although variable responses have been observed, the benefits have been largely unsatisfactory, and patients are all too often exposed to the numerous, potentially lethal side effects of common medications. Generally, only a small group of patients respond, and most people do not have long-term benefit.
We present the case of a patient in whom the symptoms of fibromyalgia were related to an underlying mitochondrial disorder. Treatment of the mitochondrial disorder resulted in resolution of symptoms.
Abstract and Introduction
Abstract
Introduction: 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 (5 mmol/L; normal < 2 mmol/L). Biochemical and genetic studies from a muscle biopsy revealed a mitochondrial myopathy. Our patient was started on a compound of coenzyme Q10 (ubiquinone) 200 mg, creatine 1000 mg, carnitine 200 mg and folic acid 1 mg to be taken four times a day. She gradually showed significant improvement in her symptoms over a course of several months.
Conclusions: 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.
Introduction
Fibromyalgia is a condition characterized by chronic widespread pain and fatigue which affects approximately 2% of the US population. The diagnostic criteria include pain lasting for longer than three months on both sides of the body, involving the upper and lower halves of the body, and presence of at least 11 out of 18 specific tender points over the body.
Over the years, several pathogenic mechanisms for the condition have been postulated but the exact pathogenesis still remains a mystery. Historically, disordered sleep, circadian rhythm abnormalities, and hormonal imbalance have been looked upon as potential causes, but whether these factors are important in the pathogenesis, or merely arise secondary to bodily stress remains unclear. Alteration in pain modulatory neuropeptides is another widely studied hypothesis, but several studies have shown variable results with no definitive conclusion. Finally, another more recent theory is the presence of underlying muscle metabolic disease that leads to abnormalities in high-energy phosphate metabolites. Other postulated causative explanations include genetic abnormalities, psychiatric disorders, and environmental stressors.
Furthermore, due to our lack of understanding of this condition, treating fibromyalgia has always been a challenge for most clinicians. Subsequently, several different groups of medications have been tried over the years. Historically, tricyclic antidepressants have been the most commonly used medications and although short-term studies did show some benefit in some patients, long-term prospective studies failed to reveal any significant effect.
Other medication groups used to treat fibromyalgia include selective serotonin reuptake inhibitors (SSRIs) and serotonin-norepinephrine reuptake inhibitors (SNRIs), anticonvulsants, opioid analgesics, sedatives, hypnotics and anti-inflammatories, and although variable responses have been observed, the benefits have been largely unsatisfactory, and patients are all too often exposed to the numerous, potentially lethal side effects of common medications. Generally, only a small group of patients respond, and most people do not have long-term benefit.
We present the case of a patient in whom the symptoms of fibromyalgia were related to an underlying mitochondrial disorder. Treatment of the mitochondrial disorder resulted in resolution of symptoms.
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