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Updated: Aug 22, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Neuropathy and Fabry's disease
David Lacomis1, Lisa Roeske-Anderson, Laurie Mathie
1Department of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA. lacomisd@upmc.edu <lacomisd@upmc.edu>
Abstract:
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.
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