Neurology Medical News about Fabry disease

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Functional and structural nerve fiber findings in heterozygote patients with Fabry disease
Pain, 08/12/09

Moller AT et al. – Fabry disease is an X–linked inherited lysosomal disorder with dysfunction of the lysosomal enzyme ?–galactosidase A causing accumulation of glycolipids in multiple organs including the nervous system. Pain and somatosensory disturbances are prominent manifestations of this disease. To explore the frequency of symptoms and the functional and structural involvement of the nervous system in female patients the authors examined the presence of pain, manifestations of peripheral neuropathy and nerve density in skin biopsies in 19 female patients with Fabry disease and 19 sex– and age–matched controls...The authors found no correlation between pain VAS score, quantitative sensory testing and intraepidermal nerve fiber density. This study demonstrates that careful evaluation of symptoms in female Fabry patients is important as small fiber disease manifestations are present, which in some cases is only detected by skin biopsy.

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