• Rainer Maag, Andreas Binder, Christoph Maier, Andrea Scherens, Thomas Toelle, Rolf-Detlef Treede, and Ralf Baron.
• Division of Neurological Pain Research and Therapy, Christian-Albrechts-Universität Kiel, Kiel, Germany. r.maag@neurologie.uni-kiel.de
• Pain Med. 2008 Nov 1; 9 (8): 1217-23.

ObjectiveFabry disease (FD) is an X-linked lipid storage disorder showing a high prevalence and early occurrence of painful neuropathy. Early detection of this likely underdiagnosed disease is an important approach because a causal therapy is available.DesignWe used a quantitative sensory testing to determine the detailed somatosensory profile of male Fabry patients and compare this profile with somatosensory profiles of other painful sensory neuropathies (SN).ResultsWithin this pilot-study, the profile revealed a small-fiber sensory neuropathy selectively affecting C- and A-delta fibers. The comparison with different somatosensory profiles of painful SN, including painful small-fiber sensory neuropathies of other etiologies, showed that the FD profile differs significantly and is characterized by a severe impairment of thermal and preserved vibratory and mechanical discrimination.ConclusionThus, somatosensory profiling in male patients with painful extremities may be useful in the detection of FD.

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