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Fabry’s disease is a multisystem disorder that is commonly associated with a painful, debilitating neuropathy. The common coexistence of arthralgias and an elevated erythrocyte sedimentation rate may lead to the misdiagnosis of a rheum atic condition. We report a 38-year-old man who was evaluated for progressiv e neuropathy and limb pain in the setting of longstanding arthralgias, presumed juvenile rheumatoid arthritis, and past renal transplantation. Histopathologic a ssessment of nerve and muscle biopsy specimens led to the diagnosis of Fabry’s disease, thus allowing the patient to receive enzyme replacement therapy that m ay slow progression and preserve the transplanted kidney.
The common coexistence of arthralgias and an elevated erythrocyte sedimentation rate may lead to the misdiagnosis of a rheum atic condition. We report a 38-year-old man who was evaluated for progressiv e neuropathy and limb pain in the setting of longstanding arthralgias, presumed juvenile rheumatoid arthritis, and past renal transplantation. Histopathologic a ssessment of nerve and muscle biopsy specimens led to the diagnosis of Fabry’s disease, thus allowing the patient to receive an enzyme replacement therapy that m ay slow progression and preserve the transplanted kidney.