Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016053 (fibromyalgia)
 4,687 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case of a 52-year old female previously followed at the Outpatient Rheumatology Clinic with the diagnosis of Fibromyalgia (FM). Approximately 2 years after this diagnosis, she presents with a 2nd degree burn in a hand, as a result of thermal hypoesthesia. The patient described hipostesia of the distal upper and lower limbs, incontinence of the anal sphincter and chronic diarrhoea with progressive worsening. The electromiography showed sensory-motor axonal polyneuropathy, chronic, moderate to severe. The muscle and nerve biopsy showed deposition of amyloid substance. The search for TTR Met 30 was positive, confirming the diagnosis of familial amyloidotic polyneuropathy. This is the first reported case of familial amyloidotic polyneuropathy as part of the differential diagnosis of fibromyalgia.
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PMID:[An unusual case of generalized pain: paramyloidosis simulating fibromyalgia]. 1972 56

Small fiber neuropathy (SFN) is a prevalent neurologic syndrome. Testing methods have emerged in recent years to better diagnose it, including autonomic tests and skin punch biopsy. SFN can present in a non-length-dependent fashion and can be mistaken for syndromes such as fibromyalgia and complex regional pain syndrome. SFN is caused by a variety of metabolic, infectious, genetic, and inflammatory diseases. Recently treatments have emerged for TTR amyloid neuropathy and Fabry disease, and novel biomarkers have been found both in genetic and inflammatory SFN syndromes. Ongoing trials attempt to establish the efficacy of intravenous immunoglobulin in inflammatory SFN syndromes.
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PMID:Advances in the Management of Small Fiber Neuropathy. 3322 78