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Pain Med. 2008 Nov;9(8):1217-23. doi: 10.1111/j.1526-4637.2008.00470.x. Epub 2008 Jun 18.

Detection of a characteristic painful neuropathy in Fabry disease: a pilot study.

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Division of Neurological Pain Research and Therapy, Christian-Albrechts-Universit├Ąt Kiel, Kiel, Germany.



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.


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).


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.


Thus, somatosensory profiling in male patients with painful extremities may be useful in the detection of FD.

[Indexed for MEDLINE]

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