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

Astrid J. Terkelsen; Páll Karlsson; Giuseppe Lauria; Roy Freeman; Nanna Brix Finnerup; Troels Staehelin Jensen

doi:10.1016/S1474-4422(17)30329-0

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

Astrid J. Terkelsen, Páll Karlsson, Giuseppe Lauria, Roy Freeman, Nanna Brix Finnerup, Troels Staehelin Jensen

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review

231 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Lancet Neurology
Volume	16
Issue	11
Pages (from-to)	934-944
Number of pages	11
ISSN	1474-4422
DOIs	https://doi.org/10.1016/S1474-4422(17)30329-0
Publication status	Published - Nov 2017

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Journal Article
Review

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10.1016/S1474-4422(17)30329-0

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

abstract = "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.",

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AU - Terkelsen, Astrid J.

AU - Karlsson, Páll

AU - Lauria, Giuseppe

AU - Freeman, Roy

AU - Finnerup, Nanna Brix

AU - Jensen, Troels Staehelin

PY - 2017/11

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N2 - 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.

AB - 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.

KW - Journal Article

KW - Review

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DO - 10.1016/S1474-4422(17)30329-0

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

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