Karam Chafic, Moshe-Lilie Orly, Chahin Nizar, Ragole Thomas, Medvedova Eva, Silbermann Rebecca
Department of Neurology, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, L226, Portland, OR 97239-3098, USA.
Department of Neurology, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, L226, Portland, OR 97239-3098, USA.
J Neurol Sci. 2020 Aug 15;415:116902. doi: 10.1016/j.jns.2020.116902. Epub 2020 May 18.
To report our institutional experience with paraproteinemic neuropathy.
We reviewed the charts of patients evaluated at our tertiary, academic neuromuscular clinic for neuropathy between 2017 and 2019 and selected those with a serum monoclonal protein. We collected patients' characteristics and reviewed their initial diagnoses and eventual outcomes.
Fifty-four of 410 patients with neuropathy (13%) had a monoclonal protein. Of these patients, 25% had not had SPEP or IFE checked prior to referral. FLC was not checked in any of the patients prior to referral. The neuropathy was felt to be related to the monoclonal protein in 24 patients (44%). Ten patients (19%), had been misdiagnosed either because they were not screened for monoclonal protein or the monoclonal protein was considered a MGUS. AL amyloid and POEMS syndrome were the most frequently missed diagnoses.
The diagnosis of paraproteinemic neuropathy was missed in nearly one in five patients in our cohort. Failure to accurately characterize a paraproteinemic neuropathy can have devastating effect on patients as some have underlying malignancies. We propose that testing serum free light chains in patients with peripheral neuropathy of unknow etiology, when SPEP/IFE are normal, may reduce the rate of misdiagnosis. Furthermore, patients with refractory CIDP should be carefully screened for POEMS syndrome.
报告我们机构在副蛋白血症性神经病变方面的经验。
我们回顾了2017年至2019年间在我们的三级学术性神经肌肉诊所接受神经病变评估的患者病历，并挑选出有血清单克隆蛋白的患者。我们收集了患者的特征，并回顾了他们的初始诊断和最终结果。
410例神经病变患者中有54例（13%）存在单克隆蛋白。在这些患者中，25%在转诊前未进行血清蛋白电泳（SPEP）或免疫固定电泳（IFE）检查。所有患者在转诊前均未检测游离轻链（FLC）。24例患者（44%）的神经病变被认为与单克隆蛋白有关。10例患者（19%）被误诊，要么是因为未筛查单克隆蛋白，要么是将单克隆蛋白视为意义未明的单克隆丙种球蛋白病（MGUS）。AL淀粉样变性和POEMS综合征是最常被漏诊的疾病。
在我们的队列中，近五分之一的患者漏诊了副蛋白血症性神经病变。未能准确诊断副蛋白血症性神经病变可能对患者产生毁灭性影响，因为有些患者存在潜在的恶性肿瘤。我们建议，对于病因不明的周围神经病变患者，当SPEP/IFE正常时，检测血清游离轻链可能会降低误诊率。此外，对于难治性慢性炎性脱髓鞘性多发性神经病（CIDP）患者，应仔细筛查是否患有POEMS综合征。
