Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta" , Milan, Italy.
Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta" , Milan, Italy.
Expert Rev Neurother. 2020 Sep;20(9):967-980. doi: 10.1080/14737175.2020.1794825. Epub 2020 Jul 23.
Small fiber neuropathy (SFN) is a heterogeneous group of disorders affecting thin myelinated Aδ and unmyelinated C fibers. Common symptoms include neuropathic pain and autonomic disturbances, and the typical clinical presentation is that of a length-dependent polyneuropathy, although other distributions could be present.
This review focuses on several aspects of SFN including etiology, clinical presentation, diagnostic criteria and tests, management, and future perspectives. Diagnostic challenges are discussed, encompassing the role of accurate and standardized assessment of symptoms and signs and providing clues for the clinical practice. The authors discuss the evidence in support of skin biopsy and quantitative sensory testing as diagnostic tests and present an overview of other diagnostic techniques to assess sensory and autonomic fibers dysfunction. The authors also suggest a systematic approach to the etiology including a set of laboratory tests and genetic examinations of sodium channelopathies and other rare conditions that might drive the therapeutic approach based on underlying cause or symptoms treatment.
SFN provides a useful model for neuropathic pain whose known mechanisms and cause could pave the way toward personalized treatments.
小纤维神经病(SFN)是一组影响薄髓鞘 Aδ 和无髓鞘 C 纤维的异质性疾病。常见症状包括神经性疼痛和自主功能紊乱,典型临床表现为长度依赖性多发性神经病,尽管也可能存在其他分布。
本综述重点介绍了 SFN 的几个方面,包括病因、临床表现、诊断标准和检查、治疗以及未来展望。讨论了诊断方面的挑战,包括准确和标准化评估症状和体征的作用,并为临床实践提供线索。作者讨论了支持皮肤活检和定量感觉测试作为诊断测试的证据,并概述了评估感觉和自主纤维功能障碍的其他诊断技术。作者还建议对病因进行系统评估,包括一系列实验室检查和钠离子通道病及其他可能导致基于潜在病因或症状治疗的治疗方法的罕见疾病的基因检查。
SFN 为神经性疼痛提供了一个有用的模型,其已知的机制和病因可能为个性化治疗铺平道路。