Continuum (Minneap Minn). 2023 Oct 1;29(5):1492-1513. doi: 10.1212/CON.0000000000001294.
Coexistence of polyneuropathy and gammopathy is a common but potentially challenging situation in clinical practice. This article reviews the clinical, electrophysiologic, and hematologic phenotypes of the paraproteinemic neuropathies and the diagnostic and treatment strategies for each.
Advances in our understanding of the underlying pathophysiology of various paraproteinemic neuropathies and their corresponding phenotypes have identified potential new therapeutic targets. Therapeutic strategies to diminish anti-myelin-associated glycoprotein (MAG) IgM antibodies have shown partial and inconsistent efficacy; however, antigen-specific immune therapy is being investigated as a novel treatment to remove the presumably pathogenic anti-MAG antibody. Advances in genetic and cell signaling studies have resulted in the approval of Bruton tyrosine kinase inhibitors for Waldenström macroglobulinemia. Monoclonal antibodies are being investigated for the treatment of light chain amyloidosis.
Early recognition and treatment of underlying plasma cell disorders improves clinical outcomes in patients with paraproteinemic neuropathy. Despite significant progress, our knowledge regarding underlying mechanisms for paraproteinemic neuropathy is still limited. Clinicians' awareness of clinical phenotypes, electrophysiologic hallmarks, and hematologic findings of the different paraproteinemic neuropathies is crucial to promptly identify and treat patients and to avert misdiagnosis. Multidisciplinary collaboration among specialists, including neurologists and hematologists, is paramount for the optimal treatment of these patients with overlapping conditions.
多发性神经病与单株丙种球蛋白血症共存是临床实践中常见但具有潜在挑战性的情况。本文综述了副蛋白血症性神经病的临床、电生理和血液学表型，以及每种疾病的诊断和治疗策略。
我们对各种副蛋白血症性神经病及其相应表型的潜在病理生理学的理解的进步，确定了潜在的新治疗靶点。减少抗髓鞘相关糖蛋白（MAG）IgM 抗体的治疗策略显示出部分和不一致的疗效；然而，抗原特异性免疫疗法作为一种新型治疗方法，正在被研究用于去除可能的致病性抗 MAG 抗体。遗传和细胞信号研究的进展导致 Bruton 酪氨酸激酶抑制剂获批用于治疗 Waldenström 巨球蛋白血症。单克隆抗体正在被研究用于治疗轻链淀粉样变性。
早期识别和治疗潜在的浆细胞疾病可改善副蛋白血症性神经病患者的临床结局。尽管取得了重大进展，但我们对副蛋白血症性神经病的潜在机制的了解仍然有限。临床医生对不同副蛋白血症性神经病的临床表型、电生理特征和血液学发现的认识，对于及时识别和治疗患者并避免误诊至关重要。包括神经科医生和血液科医生在内的专家之间的多学科合作，对于这些具有重叠病症的患者的最佳治疗至关重要。
