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


METHODS
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.


CONCLUSIONS
Thus, somatosensory profiling in male patients with painful extremities may be useful in the detection of FD.
Division of Neurological Pain Research and Therapy, Christian-Albrechts-Universität Kiel, Kiel, Germany. r.maag@neurologie.uni-kiel.de
Rainer
R
Maag
Andreas
A
Binder
Christoph
C
Maier
Andrea
A
Scherens
Thomas
T
Toelle
Rolf-Detlef
RD
Treede
Ralf
R
Baron
D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000502:physiology; D009437:Neuralgia / Q000175:diagnosis / Q000503:physiopathology; D009460:Neurologic Examination; D010147:Pain Measurement; D010865:Pilot Projects; D012678:Sensation Disorders / Q000175:diagnosis / Q000503:physiopathology; D012684:Sensory Thresholds