The diagnostic challenge of small fibre neuropathy, clinical presentations, evaluations, and causes

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisReviewForskningpeer review

  • Astrid J. Terkelsen
  • Páll Karlsson
  • Giuseppe Lauria, 3rd Neurology Unit and Skin Biopsy Peripheral Neuropathy and Neuropathic Pain Centre, Carlo Besta Neurological Institute, IRCCS Foundation, Milan, Italy; Department of Biomedical and Clinical Sciences "Luigi Sacco", University of Milan, Milan, Italy.
  • ,
  • Roy Freeman, Center for Autonomic and Peripheral Nerve Disorders, Beth Israel Deaconess Medical Center, Harvard Medical School, MA, USA.
  • ,
  • Nanna Brix Finnerup
  • Troels Staehelin Jensen

Small fibre neuropathies are a heterogeneous group of disorders affecting thinly myelinated Aδ-fibres and unmyelinated C-fibres. Although multiple causes of small nerve fibre degeneration have been reported, including via genetic mutations, the cause of small fibre neuropathy remains unknown in up to 50% of cases. The typical clinical presentation of small fibre neuropathy is that of a symmetrical, length-dependent polyneuropathy associated with sensory or autonomic symptoms. More rarely, the clinical presentation is characterised by non-length-dependent, focal, or multifocal symptoms. The diagnostic tests to identify small fibre neuropathy include skin biopsy, quantitative sensory, and autonomic testing. Additional tests, such as those measuring small fibre-related evoked potentials and corneal confocal microscopy, might contribute to a better understanding of these neuropathies. Biochemical markers can also help in screening patients for the presence of small fibre neuropathy and to assess disease progression.

TidsskriftLancet Neurology
Sider (fra-til)934-944
StatusUdgivet - nov. 2017

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