Small Fiber Neuropathien

Zusammenfassung

Small fiber Neuropathien (SFN) sind eine Subgruppe der sensiblen Polyneuropathien, die ausschließlich bzw. ganz überwiegend dünn-bemarkte A-delta Fasern und unbemarkte C-Fasern betreffen. Das typische klinische Bild ist geprägt von akralen brennenden Schmerzen mit Par- und Dysästhesien. Die neurologische Untersuchung ergibt ebenso wie die elektrophysiologische Routinediagnostik normale bis allenfalls marginal pathologische Befunde. Nur funktionelle und morphologische Zusatzuntersuchungen können Störungen der small fiber Funktion bzw. Morphologie aufdecken. Die Ätiologie der SFN ist sehr vielseitig und die Patienten müssen bezüglich potenziell behandelbarer Ursachen untersucht werden. Die häufigste Ursache für eine SFN ist der Diabetes mellitus bzw. bereits eine gestörte Glukosetoleranz. Hinsichtlich der Pathophysiologie der Schmerzen gibt es Hinweise auf eine Sensibilisierung der Nozizeptoren und bei einer Subgruppe von Patienten kann eine hereditäre Natriumkanalerkrankung mit Mutation im Gen für den spannungsabhängigen Natriumkanal Nav1.7 vorliegen. Diese Erkenntnisse könnten künftig in die Entwicklung einer spezifischen analgetischen SFN-Therapie münden, die sich im Falle einer idiopathischen SFN derzeit noch an den generellen Leitlinien zur Behandlung neuropathischer Schmerzen generell orientiert.

Abstract

Small fibre neuropathies (SFN) are a subgroup of sensory neuropathies in which almost exclusively thinly myelinated A-delta fibres and unmyelinated C-fibres are affected. The typical clinical presentation consists in acral burning pain accompanied by par- and dysaesthesias. Neurological examination as well as standard neurophysiological assessment reveal normal to marginally pathological findings. Special investigation techniques are necessary to detect functional and morphological small fibre impairment. The aetiology of SFN is variable and the patients should be examined carefully with regard to underlying potentially treatable diseases. The most frequent reason for SFN is diabetes mellitus; SFN may also be associated with impaired glucose tolerance. Pain in SFN may be caused by sensitisation of peripheral nociceptors and in a subgroup of patients also by a hereditary sodium channel disease based on mutations in the gene of the voltage-gated sodium channel Nav1.7. These pathophysiological insights may lead to the development of specific SFN analgesics. At present, treatment of idiopathic SFN follows guidelines on the treatment of neuropathic pain in general.

Schlüsselwörter

small fiber Neuropathie - akrale Brennschmerzen - Hautbiopsie - Quantitative sensorische Testung

Key words

small fibre neuropathy - akral burning pain - skin biopsy - quantitative sensory testing

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