POEMS综合征的误诊分析与早期诊断

Misdiagnosis analysis of POEMS syndrome and its early diagnosis

目的:研究POEMS综合征的误诊原因和早期诊断线索。方法:回顾分析第二军医大学长海医院近10年来26例POEMS综合征住院患者的临床及实验室资料。结果:本组26例POEMS综合征误诊率100%。误诊医院数(3.31±0.97)所、误诊科室(3.31±0.93)个、误诊时间(19.42±10.86)个月、误诊疾病共计18病种。首发症状包括周围神经炎21例(80.8%)、下肢水肿22例(84.6%)和消瘦8例(30.8%)。典型临床特征包括周围神经炎26例(100%)和器官肿大24例(92.3%),新发现子宫肥大2例、肾上腺肥大1例和胃壁肥厚酷似晚期胃癌1例。甲状腺功能减退20例(76.9%)、阳痿60% (6/10)、皮肤色素沉着24例(92.3%)和皮肤硬化17例(65.4%)。单克隆浆细胞增生的证据达81.8%(18/22)。血清免疫电泳M蛋白阳性63.6%(14/22),血清蛋白电泳M蛋白阳性2例(9.1%),尿液免疫电泳M蛋白阳性1例,胃壁活组织免疫组化λ轻链阳性1例。淋巴结活检8例,诊断为Castleman病3例,另5例淋巴细胞浸润,3例伴有浆细胞增生。神经活检4例均有轴索变性,1例伴有髓鞘变性。骨髓活检5例中浆细胞增多者2例和骨髓瘤1例。放射性核素骨扫描显示放射性吸收增高占62.5%(10/16),在骨扫描引导下骨骼穿刺查见异常浆细胞2例。结论:POEMS综合征的误诊极为常见,周围神经炎、下肢水肿和消瘦是POEMS综合征常见的早期临床特征,熟悉其病情演变规律,通过多种途径寻找M-蛋白的证据,将有助于POEMS综合征的早期诊断。

Objective：To study the causes of misdiagnosis of patients with POEMS syndrome and to discuss the clues for its early diagnosis. Methods： The clinical and laboratory data of 26 inpatients with POEMS syndrome, who were treated in Changhai hospital over the last decade, were retrospectively analyzed. Results： The misdiagnosis rate of our group was 100%. The misdiagnosis was made in （3.31 ± 0.97） hospitals and in （3.31 ± 0.93） clinical departments; the misdiagnosis period was （19.42±10.86） months and it had been misdiagnosed as 18 other diseases. The initial symptoms included polyneuropathy in 21 （80.8%） cases, edema of lower extremity in 22 （84.6%） cases, and body weight loss in 8 （30.8%） cases. The typical clinical symptoms included polyneuropathy in 26 （100%） cases and organomegaly in 24 （92. 3%）. Two cases had newly-identified uterine hypertrophy, one had adrenal gland hypertrophy, and one had gastric wall thickening mimicking advanced gastric cancer. Hypothyroidism, impotence, skin pigmentation and sclerosis occurred in 76.9% （20/26）, 60% （6/10）, 92.3% （24/ 26） and 65.4% （17/26） cases, respectively. Monoclonal plasma cell proliferation was documented in 18 （81.8%）; M proteins were positive in 14 （63. 6%） cases by serum immunofixation, and only 2 （9. 1%） cases also positive by serum protein eleetrophoresis. One patient was positive of M protein by urine immunofixation and one had abnormal infiltration of plasma cells in the gastric wall. Lymph node biopsy were performed in 8 patients and 3 were found to have Castleman disease; the other 5 cases had lymphocyte infiltration, with 3 complicated with plasma Cell proliferation. Nerve biopsy in 4 cases all revealed axonal degeneration and one patient complicated with demyelination. Bone marrow biopsy in 5 cases revealed plasmacytosis in 2 cases and myeloma in one. Excessive radioactivity resorption was found in 10 of the 16 cases （62.5%） and abnormal plasma cells were detected in 2 cases by bone aspiration guided by radioisotope bone scan. Conclusion： Misdiagnosis of POEMS syndrome is verycommon. Polyneuropathy,edema of lower extremity and body weight loss are the common early symptoms of POEMS syndrome. Early diagnosis can be made by having an intimate knowledge of the progression of the disease and by detecting M protein through various approaches.