Departments of Neurology, Chang Gung Memorial Hospital at Taipei, Taipei, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Departments of Neurology, Chang Gung Memorial Hospital at Taipei, Taipei, Taiwan; Department of Neurology, New Taipei Municipal TuCheng Hospital, New Taipei City, Taiwan; Taipei Medical University, Graduate Institute of Humanities in Medicine and Research Center for Brain and Consciousness, Shuang Ho Hospital, Taipei, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Biomed J. 2022 Apr;45(2):406-413. doi: 10.1016/j.bj.2021.04.011. Epub 2021 May 3.
The relationships among small fiber neuropathy, age, sex and pain intensity in the context of Fabry's disease remain unclear. We aim to study the correlations of small fiber neuropathy, age, sex and pain intensity in Fabry patients.
We evaluated C-fiber function by recording the withdrawal latencies to painful heat stimulus (WLPHS) when each subject's right hand was immersed in a 50 °C hot water bath and correlated this parameter with the patient's perceived pain intensity and quality of life assessed by the short-form McGill Pain Questionnaire (SF-MPQ) in a large Taiwanese Fabry family and normal controls.
Male Fabry patients showed a significantly increased WLPHS compared to that of normal controls. Furthermore, male Fabry patients showed a positive correlation of increased WLPHS with patient age. The SF-MPQ of male Fabry patients showed a bell distribution with age, and maximal pain scores were detected between the ages of the early 20s and late 40s. In contrast, the female Fabry patients had variable associations of WLPHS and SF-MPQ with age.
We proposed a probable mechanism by which globotriaosylceramide (Gb3) or globotriaosylsphingosine (lyso-Gb3) is gradually deposited into the small nerve bundles with increasing age, which induces continuous damage and produces injury discharges to sustain neuropathic pain in young male Fabry patients. However, once the small fibers are reduced to a certain degree, they no longer produce enough noxious discharges to sustain neuropathic pains in older male Fabry patients, which leads these patients to have lower SF-MPQ scores. In contrast, female Fabry patients had less and variable small fiber damage, pain intensity and clinical signs/symptoms.
在法布里病中，小纤维神经病、年龄、性别与疼痛强度之间的关系仍不清楚。我们旨在研究法布里病患者中小纤维神经病、年龄、性别与疼痛强度之间的相关性。
我们通过记录每位受试者右手浸入 50°C 热水浴时的 C 纤维功能（疼痛热刺激潜伏期，WLPHS），评估小纤维功能，并将该参数与患者的感知疼痛强度和生活质量相关联，使用简短形式麦吉尔疼痛问卷（SF-MPQ）在一个大型的台湾法布里家族和正常对照中进行评估。
男性法布里病患者的 WLPHS 明显高于正常对照组。此外，男性法布里病患者的 WLPHS 与患者年龄呈正相关。男性法布里病患者的 SF-MPQ 呈钟形分布，与年龄相关，最大疼痛评分出现在 20 多岁和 40 多岁之间。相比之下，女性法布里病患者的 WLPHS 和 SF-MPQ 与年龄的相关性各不相同。
我们提出了一种可能的机制，即随着年龄的增长，神经鞘糖脂（Gb3）或神经鞘糖脂（溶酶体Gb3）逐渐沉积在小神经束中，导致持续的损伤并产生损伤放电，以维持年轻男性法布里病患者的神经性疼痛。然而，一旦小纤维减少到一定程度，它们就不再产生足够的伤害性放电来维持老年男性法布里病患者的神经性疼痛，这导致这些患者的 SF-MPQ 评分较低。相比之下，女性法布里病患者的小纤维损伤、疼痛强度和临床体征/症状较少且变化不定。
