Abstract
IntroductionTo 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 presentationOur 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.ConclusionsThis 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.
Highlights
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
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
Summary
Fibromyalgia is a condition characterized by chronic widespread pain and fatigue which affects approximately 2% of the US population [1]. On the basis of her symptoms, our patient had been diagnosed with fibromyalgia, and was treated with multiple different medications without any relief. Her other medical history included hypothyroidism, cervical disc disease, hypertension and Raynaud’s disease. Notable family history included breast carcinoma and hypertension in her mother, and lymphoma in her father Her medications at presentation included lisinopril 5 mg daily and levothyroxine 25 μg daily. Our patient was started on a compound of Co-Q10 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
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