背景:多发性神经病,器官肿大,内分泌病,M-蛋白,皮肤改变(POEMS)综合征是一种罕见的浆细胞(PC)肿瘤,伴有副肿瘤综合征。根据目前的诊断标准,外周多发性神经病和单克隆PC增殖性疾病代表两个强制性标准.
方法:我们报告一名54岁男性,双侧下肢周围神经病变,硬化骨病变,血管内皮生长因子(VEGF)水平升高,脾肿大,血管外容量超负荷,内分泌病,和皮肤血管瘤.值得注意的是,该患者的血清和尿蛋白电泳(PEP)和免疫固定电泳(IFE)表明无法检测到M蛋白以及游离轻链κ和λ的正常比例(FLC-R(κ/λ))。在骨髓检查或病变骨活检中未发现单克隆PC。然而,他的临床表现符合大多数诊断标准。排除其他容易与POEMS综合征混淆的疾病后,提出了无法检测到M蛋白的变异POEMS综合征的诊断。使用来那度胺加地塞米松治疗6个月后,患者获得了临床上显着的改善,升高的VEGF恢复正常。
结论:作为POEMS综合征的强制性标准的单克隆PC障碍(M蛋白)在大量表现出典型症状的患者中无法检测到。这里,我们报道了1例具有特征性临床表现的变异型POEMS综合征,VEGF水平升高,对靶向PC的治疗反应良好,但没有M蛋白的证据。因此,M蛋白和单克隆PC的阴性结果不足以拒绝POEMS综合征的诊断。认识POEMS综合征的变异形式势在必行。
BACKGROUND: Polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome is a rare plasma cell (PC) neoplasm with associated paraneoplastic syndrome. According to the current diagnostic criteria, peripheral polyneuropathy and monoclonal PC proliferative disorder represent two mandatory criteria.
METHODS: We report a 54-year-old male with peripheral neuropathy of bilateral lower limbs, sclerotic bone lesions, elevated vascular endothelial growth factor (VEGF) levels, splenomegaly, extravascular volume overload, endocrinopathy, and skin hemangiomas. Of note, serum and urine protein electrophoresis (PEP) and immunofixation electrophoresis (IFE) of this patient indicated undetectable M-protein and the normal ratio of free light chains κ and λ (FLC-R (κ/λ)). No monoclonal PCs were found in bone marrow examinations or biopsy of diseased bones. However, his clinical manifestations matched most of the diagnostic criteria. After excluding other diseases that are easily confused with POEMS syndrome, the diagnosis of variant POEMS syndrome with undetectable M-protein was proposed. The patient obtained clinically significant improvement and elevated VEGF returned to normal after 6 months of treatment with lenalidomide plus dexamethasone.
CONCLUSIONS: Monoclonal PC dyscrasia (M-protein) while being a mandatory criterion for POEMS syndrome is undetectable in a considerable amount of patients that otherwise demonstrate typical symptoms. Here, we reported a case of variant POEMS syndrome with featured clinical manifestations, elevated VEGF levels, and good response to therapies targeting PCs but no evidence of M-protein. Therefore, negative results in M-protein and monoclonal PCs aren\'t enough to reject the diagnosis of POEMS syndrome. It is imperative to recognize the variant form of POEMS syndrome.