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  • Title: Detection of a characteristic painful neuropathy in Fabry disease: a pilot study.
    Author: Maag R, Binder A, Maier C, Scherens A, Toelle T, Treede RD, Baron R.
    Journal: Pain Med; 2008 Nov; 9(8):1217-23. PubMed ID: 18565003.
    Abstract:
    OBJECTIVE: Fabry 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. DESIGN: We 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). RESULTS: Within 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. CONCLUSION: Thus, somatosensory profiling in male patients with painful extremities may be useful in the detection of FD.
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