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Definitive diagnostic criteria for small fibre neuropathy have yet to be established, with implications both for clinical practice and for the design of clinical trials. Devigili et al. demonstrate that a combined approach – with clinical, functional and structural assessment of small nerve fibres – improves the reliability of diagnosis.

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes ABSTRACT Objective: To investigate the involvement of small nerve fibers in Ehlers-Danlos syndrome (EDS).Methods: Patients diagnosed with EDS underwent clinical, neurophysiologic, and skin biopsy assessment. We recorded sensory symptoms and signs and evaluated presence and severity of neuropathic pain according to the Douleur Neuropathique 4 (DN4) and ID Pain questionnaires and the Numeric Rating Scale (NRS). Sensory action potential amplitude and conduction velocity of sural nerve was recorded. Skin biopsy was performed at distal leg and intraepidermal nerve fiber density (IENFD) obtained and referred to published sex-and age-adjusted normative reference values.Results: Our cohort included 20 adults with joint hypermobility syndrome/hypermobility EDS, 3 patients with vascular EDS, and 1 patient with classic EDS. All except one patient had neuropathic pain according to DN4 and ID Pain questionnaires and reported 7 or more symptoms at the Small Fiber Neuropathy Symptoms Inventory Questionnaire. Pain intensity was moderate (NRS $4 and ,7) in 8 patients and severe (NRS $7) in 11 patients. Sural nerve conduction study was normal in all patients. All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type.Conclusions: SFN is a common feature in adults with EDS. Skin biopsy could be considered an additional diagnostic tool to investigate pain manifestations in EDS. Neurology ® 2016;87:155-159 GLOSSARY cEDS 5 classic Ehlers-Danlos syndrome; DN4 5 Douleur Neuropathique 4; EDS 5 Ehlers-Danlos syndrome; hEDS 5 hypermobility Ehlers-Danlos syndrome; IENFD 5 intraepidermal nerve fiber density; JHS 5 joint hypermobility syndrome; NRS 5 Numeric Rating Scale; SFN 5 small fiber neuropathy; SFN-SIQ 5 Small Fiber Neuropathy and Symptoms Inventory Questionnaire; SNAP 5 sensory nerve action potential; vEDS 5 vascular Ehlers-Danlos syndrome.

In the last 5 years, the chapter of SFN has been widened by new clinical and genetics descriptions leading to a more comprehensive approach to patients in clinical practice and research.