Clinical and neurophysiological features of neuropathic pain in hereditary transthyretin amyloidosis associated polyneuropathy.

IF 7.4 2区医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-08-13 DOI:10.1080/13506129.2025.2544926

Isabel Conceição, Isabel de Castro, José Castro

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引用次数: 0

Abstract

Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is often associated with neuropathic pain (NP), involving developing mechanisms across different nerve fibres. This study aimed to explore the relationship between NP intensity and clinical/neurophysiological measures in symptomatic ATTR V30M (p.V50M)-PN patients.

Methods: We included 106 symptomatic patients (46 males; mean age 47.5 ± 13.2 years). NP severity was classified using three pain-related items from the Norfolk QOL-DN, generating three groups: no pain, mild pain, and moderate-to-severe pain. Clinical and neurophysiological assessments included the Neuropathy Impairment Score (NIS), nerve conduction studies (sural SNAP, peroneal CMAP), electrochemical skin conductance (ESC), sympathetic skin response (SSR), and Quantitative Sensory Testing (QST). Statistical analyses included non-parametric tests and ordinal logistic regression.

Results: Patients with NP had significantly higher NIS scores and reduced sural/peroneal amplitudes and ESC values. However, only NIS was significantly associated with NP intensity (OR = 1.062, 95% CI: 1.008-1.119, p = .024). Subscore analysis showed the sensory component as the main driver (OR = 1.205, p = .015). QST variables differed by pain presence but not intensity.

Conclusion: NIS, especially its sensory subscore, is a robust predictor of NP severity in ATTRv-PN. These findings support its utility in monitoring disease burden and guiding management.

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遗传性甲状腺转蛋白淀粉样变相关多神经病变神经性疼痛的临床和神经生理特征。

背景：遗传性甲状腺转视蛋白淀粉样变合并多神经病变（ATTRv-PN）通常与神经性疼痛（NP）相关，涉及不同神经纤维的发展机制。本研究旨在探讨有症状ATTR V30M (p.V50M)-PN患者NP强度与临床/神经生理指标的关系。方法：纳入106例有症状患者(男46例；平均年龄（47.5±13.2岁）。NP严重程度使用Norfolk QOL-DN中的三个疼痛相关项目进行分类，分为三组：无疼痛、轻度疼痛和中度至重度疼痛。临床和神经生理评估包括神经病变损害评分（NIS）、神经传导研究（腓骨SNAP、腓骨CMAP）、皮肤电化学电导（ESC）、交感皮肤反应（SSR）和定量感觉测试（QST）。统计分析包括非参数检验和有序逻辑回归。结果：NP患者的NIS评分显著升高，腓肠/腓骨波幅和ESC值降低。然而，只有NIS与NP强度显著相关（OR = 1.062, 95% CI: 1.008-1.119, p = 0.024）。分评分分析显示，感觉成分是主要驱动因素（OR = 1.205, p = 0.015）。QST变量因疼痛存在而异，但强度无关。结论：NIS，尤其是其感觉评分，是ATTRv-PN患者NP严重程度的可靠预测因子。这些发现支持其在监测疾病负担和指导管理方面的效用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Amyloid-Journal of Protein Folding Disorders 生物-生化与分子生物学

CiteScore

10.60

自引率

10.90%

发文量

审稿时长

6-12 weeks

期刊介绍： Amyloid: the Journal of Protein Folding Disorders is dedicated to the study of all aspects of the protein groups and associated disorders that are classified as the amyloidoses as well as other disorders associated with abnormal protein folding. The journals major focus points are: etiology, pathogenesis, histopathology, chemical structure, nature of fibrillogenesis; whilst also publishing papers on the basic and chemical genetic aspects of many of these disorders. Amyloid is recognised as one of the leading publications on amyloid protein classifications and the associated disorders, as well as clinical studies on all aspects of amyloid related neurodegenerative diseases and major clinical studies on inherited amyloidosis, especially those related to transthyretin. The Journal also publishes book reviews, meeting reports, editorials, thesis abstracts, review articles and symposia in the various areas listed above.