INTRODUCTION Fabry disease is a rare multisystemic lysosomal disease resulting in variable manifestations of the gastrointestinal (GI), neurologic, cardiac, and renal systems. Whether GI manifestations are a result of gut dysmotility is undetermined. We aimed to explore GI manifestations in depth, their effect on patients with Fabry disease, and to characterize gut motility. METHODS We recruited adult patients with Fabry disease reporting GI manifestations. All patients answered a battery of questionnaires covering symptom severity, GI specific quality of life (QoL), and work/productivity questionnaires, and underwent a wireless motility capsule (WMC) to measure pan-gut motility. RESULTS In 48 patients with Fabry disease, abnormal bowel habits and abdominal pain were the most common symptoms. Bloating, nausea, vomiting, and reflux were also prevalent. Neurologic manifestations were found in 95.8% of patients and along with their GI manifestations. Dysmotility was found in less than 35% of WMC tests. Colon transit time was associated with constipation severity and Bristol stool scale. Several GI symptoms were associated with reduced QoL, anxiety and work/productivity, but not Fabry severity score. DISCUSSION This is the largest study of GI manifestations in patients with Fabry disease that characterizes gut motility. We found little association between GI manifestations and motility indices, suggesting that visceral-hypersensitivity may be a major driver of symptoms. GI symptoms affect different aspects of patients' lives, yet are not always well discussed or optimally managed in Fabry disease. Disease severity scores, when used for therapeutic decision making do not often include GI symptoms or their impact.

中文翻译：

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法布里病的胃肠感觉神经病变和运动障碍：表现及其对患者生活质量的影响。

引言法布里病是一种罕见的多系统溶酶体疾病，导致胃肠道（GI）、神经系统、心脏和肾脏系统的不同表现。胃肠道表现是否是肠道运动障碍的结果尚未确定。我们的目的是深入探索胃肠道表现、其对法布里病患者的影响，并表征肠道动力。方法 我们招募了报告胃肠道表现的法布里病成年患者。所有患者均回答了一系列调查问卷，涵盖症状严重程度、胃肠道特定生活质量 (QoL) 和工作/生产力调查问卷，并接受无线动力胶囊 (WMC) 测量全肠动力。结果 在 48 名法布里病患者中，排便习惯异常和腹痛是最常见的症状。腹胀、恶心、呕吐和反流也很常见。95.8% 的患者发现了神经系统表现及其胃肠道表现。不到 35% 的 WMC 测试中发现了运动障碍。结肠传输时间与便秘严重程度和布里斯托大便量表相关。一些胃肠道症状与生活质量、焦虑和工作/生产力下降有关，但与法布里严重程度评分无关。讨论 这是对法布里病患者胃肠道表现最大规模的研究，以肠道蠕动为特征。我们发现胃肠道表现和运动指数之间几乎没有关联，这表明内脏过敏可能是症状的主要驱动因素。胃肠道症状影响患者生活的不同方面，但在法布里病中并不总是得到很好的讨论或最佳的治疗。当用于治疗决策时，疾病严重程度评分通常不包括胃肠道症状或其影响。