Small fiber neuropathy in female patients with fabry disease

Abstract

Recent studies suggest that heterozygous female Fabry disease (FD) patients develop peripheral neuropathy. We used skin biopsy to define somatic and autonomic peripheral nerve characteristics in 21 females with FD who were mainly asymptomatic and had normal renal function. Somatic epidermal and dermal autonomic nerve fiber reductions were found, prevalently in the leg, and no differences were found between symptomatic and asymptomatic individuals. Our findings suggest that females with FD, although asymptomatic, may have somatic and autonomic small fiber neuropathy.

A comprehensive Fabry-related pain questionnaire for adult patients

“…Whereas small fiber neuropathy is assumed to be the basis of the neuropathic component of Fabry disease pain [2,11,16,19], and Gb3 deposits have been reported in dorsal root ganglion sensory neurons of patients with Fabry disease [9], there are several aspects that are not easily compatible with the current concept of neuropathic pain, for example, the very distinct phenotype of a pain crisis comprising the entire body, or pain localizations such as a tooth or joints [18]. Also, Fabry disease patients usually report an efficacy of nonsteroidal anti-inflammatory drugs as acute pain medication.…”

“…The recognition of this early red flag is essential to make the diagnosis and to start treatment before organ involvement ensues. Fabry disease-associated pain is assumed to be neuropathic because Gb3 deposits have been reported in nervous tissue of patients [5,9] and because small-fiber neuropathy is associated with Fabry disease [2,10,11,16,19,20]. However, Fabry pain also entails nonneuropathic components and may respond to medication that is otherwise ineffective in neuropathic pain [18].…”

Neurological Manifestations of Fabry Disease in Children and Adolescents

“…У гетерозиготных пациенток даже без клинической манифестации заболевания может развиваться периферическая нейропатия, подтвержда-емая биопсией [47], но не выявляемая при электро-нейромиографии [12].…”

Peripheral nerve involvement in neurolipidoses

“…Skin biopsy shows reduction of somatic epidermal and dermal autonomic nerve fibers in male as well as in female patients [17]. Corneal confocal microscopy can also help to detect early nerve fiber damage in Fabry disease [18].…”