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.
Maag
Rainer
R
Division of Neurological Pain Research and Therapy, Christian-Albrechts-Universität Kiel, Kiel, Germany. r.maag@neurologie.uni-kiel.de
Binder
Andreas
A
Maier
Christoph
C
Scherens
Andrea
A
Toelle
Thomas
T
Treede
Rolf-Detlef
RD
Baron
Ralf
R
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