Furciniti Gioconda, Casalino Giuseppe, Lo Russo Francesco M, Bolli Niccolò, Meneri Megi, Comi Giacomo P, Corti Stefania P, Velardo Daniele
Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, 20122 Milano, Italy.
Eye Clinic, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Diseases. 2023 Nov 10;11(4):167. doi: 10.3390/diseases11040167.
POEMS syndrome-characterized by polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes-is an uncommon and complex paraneoplastic disorder encompassing a diverse array of symptoms. Here we report the challenging case of a 34-year-old female who sought medical attention at the emergency department due to distal lower limb weakness. She was breastfeeding her first child at that time. Her condition rapidly deteriorated, making it difficult for her to perform simple tasks independently. Initially, she struggled with activities like jumping or climbing stairs. Eventually, her ability to walk was also compromised. These symptoms underscored the swift evolution of her polyneuropathy. Nerve conduction studies and electromyography confirmed a diagnosis of mixed demyelinating and axonal polyneuropathy. Subsequent investigations, including bone marrow biopsy and immunochemistry testing, revealed a plasma cell disorder characterized by lambda monoclonal gammopathy, along with elevated levels of vascular endothelial growth factor (VEGF > 8000 pg/mL). This pivotal finding led to the diagnosis of POEMS syndrome, prompting the initiation of antineoplastic therapy (daratumumab-lenalidomide-dexamethasone) to manage this condition. An autologous cell transplantation was planned. The rarity of POEMS syndrome and its diverse clinical manifestations often lead to an incorrect or delayed diagnosis. Our case underscores the importance of considering this syndrome in patients presenting with acute or subacute polyneuropathy, even if the patients are young. In conclusion, this case elucidates the diagnostic complexities of POEMS syndrome, emphasizing the integral role of comprehensive multidisciplinary evaluations and the potential influence of increased VEGF as a diagnostic key element and possible therapeutic target.
POEMS综合征以多发性神经病、器官肿大、内分泌病、M蛋白和皮肤改变为特征，是一种罕见且复杂的副肿瘤性疾病，症状多样。本文报告了一例具有挑战性的病例，一名34岁女性因下肢远端无力到急诊科就诊。当时她正在母乳喂养她的第一个孩子。她的病情迅速恶化，难以独立完成简单任务。起初，她在跳跃或爬楼梯等活动中遇到困难。最终，她的行走能力也受到影响。这些症状突出了她的多发性神经病的迅速发展。神经传导研究和肌电图检查确诊为脱髓鞘和轴索性混合性多发性神经病。随后的检查，包括骨髓活检和免疫化学检测，发现了一种以λ单克隆丙种球蛋白病为特征的浆细胞疾病，同时血管内皮生长因子水平升高（VEGF>8000 pg/mL）。这一关键发现导致了POEMS综合征的诊断，促使开始进行抗肿瘤治疗（达雷妥尤单抗-来那度胺-地塞米松）来治疗这种疾病。计划进行自体细胞移植。POEMS综合征的罕见性及其多样的临床表现常常导致诊断错误或延迟。我们的病例强调了在患有急性或亚急性多发性神经病的患者中考虑这种综合征的重要性，即使患者很年轻。总之，本病例阐明了POEMS综合征的诊断复杂性，强调了全面多学科评估的重要作用以及VEGF升高作为诊断关键要素和可能治疗靶点的潜在影响。
