本文报告1例52岁女性患者, 临床主要表现为双手雷诺现象(Raynaud phenomenon)、皮肤色素沉着、双手双足肿胀及双足麻木, 最终确诊为POEMS综合征的诊疗经过。患者因"颈胸部皮肤紫红1年半, 双手肿胀1年, 双足麻木8月余"于2024年4月8日入住北京大学人民医院风湿免疫科。约1年半前患者曾在外院诊断为系统性硬化症(systemic sclerosis, SSc), 诊断依据包括一系列临床表现的证据, 包括双手雷诺现象、皮肤色素沉着、双手及双足肿胀、双足麻木, 符合2013年美国风湿病学会和欧洲抗风湿病联盟的SSc分类标准。病程中患者曾规律应用糖皮质激素及改善病情的抗风湿药物治疗, 然而病情仍持续进展。8个月前出现新发双足麻木伴针刺样疼痛, 提示病情复杂, 需进一步探究病因, 鉴别诊断需考虑混合性结缔组织病、嗜酸性筋膜炎和恶性肿瘤等可能。辅助检查显示, 患者血清抗核抗体、抗拓扑异构酶1(Scl-70)抗体、抗U1小核糖核蛋白抗体及抗中性粒细胞胞质抗体均为阴性, 影像学检查未见肺动脉高压及肺间质纤维化。此外, 患者合并多种内分泌异常, 经糖皮质激素和改善病情的抗风湿药物治疗反应不佳, 提示需警惕淋巴增殖性疾病的可能性。进一步行血管内皮生长因子(vascular endothelial growth factor, VEGF)检测、全身骨显像及骨髓穿刺活组织检查等, 最终明确诊断为POEMS综合征。患者随即转入血液科, 接受泊马度胺联合地塞米松方案治疗, 临床症状逐渐缓解。本病例提示, POEMS综合征在临床表现上与SSc等风湿免疫性疾病相似, 临床医师在诊疗过程中应提高警惕, 注意鉴别, 以减少漏诊及误诊, 从而为患者制定更为精准、有效的治疗方案。

This article reports the diagnosis and treatment process of a 52-year-old female patient who was finally diagnosed with POEMS syndrome. Her main clinical manifestations included Raynaud phenomenon of both hands, skin pigmentation, swelling of both hands and feet, and numbness of both feet. The patient was admitted to the Department of Rheumatology and Immunology, Peking University People's Hospital on April 8, 2024, due to "purplish red skin on the neck and chest for 1.5 years, swelling of both hands for 1 year, and numbness of both feet for 8 months". One and a half years ago, she was diagnosed with systemic sclerosis (SSc) in another hospital, based on evidence from a series of clinical manifestations. Her main symptoms were Raynaud phenomenon of both hands, skin pigmentation, swelling of both hands and feet, and numbness of both feet, which met the 2013 classification criteria for SSc by the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR). During the disease course, the patient received regular treatment with glucocorticoids and disease-modifying antirheumatic drugs (DMARDs), but her condition still progressed continuously. Eight months ago, she developed new-onset numbness in both her feet accompanied by pinprick-like pain, indicating the complexity of the condition and the need for further investigation of the etiology. Differential diagnosis should consider possibilities, such as mixed connective tissue disease, eosinophilic fasciitis, and malignant tumors. Auxiliary examinations showed that the patient's serum antinuclear antibody, anti-topoisomerase Ⅰ(Scl-70) antibody, anti-U1 ribonucleoprotein (RNP) antibody, and antineutrophil cytoplasmic antibody were all negative. Imaging examinations revealed no pulmonary arterial hypertension or pulmonary interstitial fibrosis. In addition, the patient had multiple endocrine abnormalities and responded poorly to treatment with glucocorticoids and DMARDs, suggesting the need to be alert to the possibility of lymphoproliferative diseases. Further examinations including vascular endothelial growth factor detection, whole-body bone scan, and bone marrow aspiration and biopsy were performed, and the final diagnosis of POEMS syndrome was confirmed. The patient was then transferred to the Department of Hemato-logy and received treatment with the pomalidomide combined with dexamethasone regimen, and her clinical symptoms gradually relieved. This case suggests that POEMS syndrome is similar to rheumatological and immunological diseases such as SSc in terms of clinical manifestations. Clinicians should be more vigilant during diagnosis and treatment, and pay attention to differentiation, so as to reduce missed diagnoses and misdiagnoses, thereby formulating more accurate and effective treatment plans for patients.

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