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.
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.
Authors: Kathrin Arning; Dennis Naleschinski; Rainer Maag; Marieke Biegstraaten; Peter Kropp; Jürgen Lorenzen; Carla E M Hollak; Ivo N van Schaik; Pontus Harten; Rainald A Zeuner; Andreas Binder; Ralf Baron Journal: J Neurol Date: 2012-08-10 Impact factor: 4.849
Authors: Michael Schelleckes; Malte Lenders; Katrin Guske; Boris Schmitz; Christian Tanislav; Sonja Ständer; Dieter Metze; Istvan Katona; Joachim Weis; Stefan-Martin Brand; Thomas Duning; Eva Brand Journal: Orphanet J Rare Dis Date: 2014-11-26 Impact factor: 4.123