Diagnostic criteria for small fibre neuropathy in clinical practice and research
Diagnostic criteria for small fibre neuropathy in clinical practice and research
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DOI：
10.1093/brain/awz333
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发表时间：
2019-12-01
期刊：
影响因子：
14.5
通讯作者：
Lauria, Giuseppe
中科院分区：
文献类型：
--
作者：
Devigili, Grazia;Rinaldo, Sara;Lauria, Giuseppe
小纤维神经病的诊断标准尚未建立，影响了临床实践中对患者的方法，他们获得疾病改善和对症治疗，医疗资源的使用以及临床试验的设计。为了解决这些问题，我们对150例感觉神经病患者进行了重新评估研究，并对352例疑似感觉神经病的新受试者进行了前瞻性和随访验证研究。小纤维神经病的诊断标准基于深部临床表型、定量感觉测试（QST）和表皮内神经纤维密度（IENFD）。在重新评估研究的150例患者中，5例（3.3%）排除了小纤维神经病。根据两种临床体征和异常QST和IENFD（69.1%）、单独异常QST（5.4%）或单独异常IENFD（20.1%）之间的组合，352例患者中有149例（42.4%）在验证研究的基线时被诊断为小纤维神经病。8例（5.4%）患者QST和IENFD异常，但无临床体征。此外，38例患者主诉感觉症状，但未显示临床体征。其中QST和IENFD正常者34例（89.4%），QST异常而IENFD正常者4例（10.5%），无IENFD单独异常者。在18个月随访时，其中19例（56%）报告症状完全恢复，并显示正常的临床、QST和IENFD结果。没有一个单一的异常测试（QST或IENFD）发展的临床体征或显示其他测试的异常结果。相反，基线时QST和IENFD异常的所有8例患者在随访时均出现临床体征。临床体征和异常QST和/或IENFD结果的组合可以更可靠地导致小纤维神经病的诊断，而不是在没有临床体征的情况下异常QST和IENFD结果的组合。单独的感觉症状不应被认为是一个可靠的筛选功能。我们的研究结果表明，结合临床，功能和结构的方法来诊断小纤维神经病变是可靠的，相关的临床实践和临床试验设计。
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.