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Diagnostic criteria for small fibre neuropathy in clinical practice and research.
Brain. 2019 12 01; 142(12):3728-3736.B

Abstract

The diagnostic criteria for small fibre neuropathy are not established, influencing the approach to patients in clinical practice, their access to disease-modifying and symptomatic treatments, the use of healthcare resources, and the design of clinical trials. To address these issues, we performed a reappraisal study of 150 patients with sensory neuropathy and a prospective and follow-up validation study of 352 new subjects with suspected sensory neuropathy. Small fibre neuropathy diagnostic criteria were based on deep clinical phenotyping, quantitative sensory testing (QST) and intraepidermal nerve fibre density (IENFD). Small fibre neuropathy was ruled out in 5 of 150 patients (3.3%) of the reappraisal study. Small fibre neuropathy was diagnosed at baseline of the validation study in 149 of 352 patients (42.4%) based on the combination between two clinical signs and abnormal QST and IENFD (69.1%), abnormal QST alone (5.4%), or abnormal IENFD alone (20.1%). Eight patients (5.4%) had abnormal QST and IENFD but no clinical signs. Further, 38 patients complained of sensory symptoms but showed no clinical signs. Of those, 34 (89.4%) had normal QST and IENFD, 4 (10.5%) had abnormal QST and normal IENFD, and none had abnormal IENFD alone. At 18-month follow-up, 19 of them (56%) reported the complete recovery of symptoms and showed normal clinical, QST and IENFD findings. None of those with one single abnormal test (QST or IENFD) developed clinical signs or showed abnormal findings on the other test. Conversely, all eight patients with abnormal QST and IENFD at baseline developed clinical signs at follow-up. The combination of clinical signs and abnormal QST and/or IENFD findings can more reliably lead to the diagnosis of small fibre neuropathy than the combination of abnormal QST and IENFD findings in the absence of clinical signs. Sensory symptoms alone should not be considered a reliable screening feature. Our findings demonstrate that the combined clinical, functional and structural approach to the diagnosis of small fibre neuropathy is reliable and relevant both for clinical practice and clinical trial design.

Authors+Show Affiliations

Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Department of Biomedical and Clinical Sciences "Luigi Sacco", University of Milan, Milan, Italy.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

31665231

Citation

Devigili, Grazia, et al. "Diagnostic Criteria for Small Fibre Neuropathy in Clinical Practice and Research." Brain : a Journal of Neurology, vol. 142, no. 12, 2019, pp. 3728-3736.
Devigili G, Rinaldo S, Lombardi R, et al. Diagnostic criteria for small fibre neuropathy in clinical practice and research. Brain. 2019;142(12):3728-3736.
Devigili, G., Rinaldo, S., Lombardi, R., Cazzato, D., Marchi, M., Salvi, E., Eleopra, R., & Lauria, G. (2019). Diagnostic criteria for small fibre neuropathy in clinical practice and research. Brain : a Journal of Neurology, 142(12), 3728-3736. https://doi.org/10.1093/brain/awz333
Devigili G, et al. Diagnostic Criteria for Small Fibre Neuropathy in Clinical Practice and Research. Brain. 2019 12 1;142(12):3728-3736. PubMed PMID: 31665231.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnostic criteria for small fibre neuropathy in clinical practice and research. AU - Devigili,Grazia, AU - Rinaldo,Sara, AU - Lombardi,Raffaella, AU - Cazzato,Daniele, AU - Marchi,Margherita, AU - Salvi,Erika, AU - Eleopra,Roberto, AU - Lauria,Giuseppe, PY - 2019/05/30/received PY - 2019/07/06/revised PY - 2019/09/04/accepted PY - 2019/10/31/pubmed PY - 2020/5/22/medline PY - 2019/10/31/entrez KW - diagnostic criteria KW - neuropathic pain KW - quantitative sensory testing KW - skin biopsy KW - small fibre neuropathy SP - 3728 EP - 3736 JF - Brain : a journal of neurology JO - Brain VL - 142 IS - 12 N2 - The diagnostic criteria for small fibre neuropathy are not established, influencing the approach to patients in clinical practice, their access to disease-modifying and symptomatic treatments, the use of healthcare resources, and the design of clinical trials. To address these issues, we performed a reappraisal study of 150 patients with sensory neuropathy and a prospective and follow-up validation study of 352 new subjects with suspected sensory neuropathy. Small fibre neuropathy diagnostic criteria were based on deep clinical phenotyping, quantitative sensory testing (QST) and intraepidermal nerve fibre density (IENFD). Small fibre neuropathy was ruled out in 5 of 150 patients (3.3%) of the reappraisal study. Small fibre neuropathy was diagnosed at baseline of the validation study in 149 of 352 patients (42.4%) based on the combination between two clinical signs and abnormal QST and IENFD (69.1%), abnormal QST alone (5.4%), or abnormal IENFD alone (20.1%). Eight patients (5.4%) had abnormal QST and IENFD but no clinical signs. Further, 38 patients complained of sensory symptoms but showed no clinical signs. Of those, 34 (89.4%) had normal QST and IENFD, 4 (10.5%) had abnormal QST and normal IENFD, and none had abnormal IENFD alone. At 18-month follow-up, 19 of them (56%) reported the complete recovery of symptoms and showed normal clinical, QST and IENFD findings. None of those with one single abnormal test (QST or IENFD) developed clinical signs or showed abnormal findings on the other test. Conversely, all eight patients with abnormal QST and IENFD at baseline developed clinical signs at follow-up. The combination of clinical signs and abnormal QST and/or IENFD findings can more reliably lead to the diagnosis of small fibre neuropathy than the combination of abnormal QST and IENFD findings in the absence of clinical signs. Sensory symptoms alone should not be considered a reliable screening feature. Our findings demonstrate that the combined clinical, functional and structural approach to the diagnosis of small fibre neuropathy is reliable and relevant both for clinical practice and clinical trial design. SN - 1460-2156 UR - https://www.unboundmedicine.com/medline/citation/31665231/Diagnostic_criteria_for_small_fibre_neuropathy_in_clinical_practice_and_research_ L2 - https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awz333 DB - PRIME DP - Unbound Medicine ER -