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Neuropathy and Fabry's disease
Author(s) -
Lacomis David,
RoeskeAnderson Lisa,
Mathie Laurie
Publication year - 2005
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20130
Subject(s) - medicine , enzyme replacement therapy , fabry disease , disease , surgery , peripheral neuropathy , biopsy , fabry's disease , muscle biopsy , rheumatoid arthritis , diabetes mellitus , pathology , endocrinology
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 rheumatic condition. We report a 38‐year‐old man who was evaluated for progressive neuropathy and limb pain in the setting of longstanding arthralgias, presumed juvenile rheumatoid arthritis, and past renal transplantation. Histopathologic assessment of nerve and muscle biopsy specimens led to the diagnosis of Fabry's disease, thus allowing the patient to receive enzyme replacement therapy that may slow progression and preserve the transplanted kidney. Muscle Nerve 2004