Journal Article

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

Terkelsen, Astrid J, Jensen, Troels S, Lauria, Giuseppe, Freeman, Roy, Finnerup, Nanna B, Karlsson, Páll

2017

Overview

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.

• Publisher: Elsevier Ltd,Elsevier Limited
• Subject: Alcohol / Autonomic nervous system / Biochemical markers / Biopsy / Biopsy - methods / Confocal microscopy / Cornea / Degeneration / Diabetes / Diabetic neuropathy / Evoked potentials / Female / Fibers / Humans / Male / Medical diagnosis / Microscopy, Confocal / Mutation / Nervous system / Neural Conduction - physiology / Neuropathy / Pain / Pathology / Peripheral neuropathy / Polyneuropathy / Skin / Skin - pathology / Small Fiber Neuropathy - diagnosis / Small Fiber Neuropathy - etiology / Small Fiber Neuropathy - genetics / Small Fiber Neuropathy - physiopathology