1例并发Ⅰ型血管性血友病的华氏巨球蛋白血症病例报道  

A case report of Waldenstrom macroglobulinemia complicated with typeⅠvon Willebrand disease

作　　者：菅辉玲[1] 宋永顺[2] 刘禹 胡军[1] 高丽霞[1] 许冠群[3] JIAN Huiling;SONG Yongshun;LIU Yu;HU Jun;GAO Lixia;XU Guanqun(Department of Hematologic Oncology,Karamay Central Hospital of Xinjiang,Karamay 834000,China;Department of Laboratory Medicine,Karamay Central Hospital of Xinjiang,Karamay 834000,China;Department of Laboratory Medicine,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China)

机构地区：[1]新疆克拉玛依市中心医院血液肿瘤科,克拉玛依834000 [2]新疆克拉玛依市中心医院检验科,克拉玛依834000 [3]上海交通大学医学院附属瑞金医院检验科,上海200025

出　　处：《上海交通大学学报（医学版）》2022年第3期400-402,共3页Journal of Shanghai Jiao tong University:Medical Science

基　　金：新疆维吾尔自治区创新环境建设专项—天山青年计划(2020Q101)。

摘　　要：患者,男,59岁,因“反复皮肤黏膜出血3年余”就诊。患者曾有外力导致鼻腔出血难以自行止血病史。行凝血相关检查,初步诊断为Ⅰ型血管性血友病(von Willebrand disease,vWD)。进一步完善实验室及相关检查,患者免疫球蛋白M(immunoglobulin M,IgM)增高明显,确诊为华氏巨球蛋白血症;同时检测出髓样分化因子88(myeloid differentiation primary response 88,MYD88)的L265P突变合并趋化因子C-X-C基元受体4(chemokine C-X-C motif receptor 4,CXCR4)基因变异,位点为c.1013C>G。积极治疗原发病后,未再次出血。vWD是一种少见的获得性出血疾病,大多数病例是由于循环中的抑制物诱发血管性血友病因子(von Willebrand factor,vWF)清除加速所致;华氏巨球蛋白血症等B淋巴细胞疾病,其循环中IgM可能加速vWF的清除,从而继发vWD。MYD88^(L265P)与CXCR4^(1013G)双突变的华氏巨球蛋白血症肿瘤负荷重,IgM高,更易并发vWD。该病例资料提示医务人员在诊断vWD时应警惕是否存在其他原发病;治疗的同时对于免疫球蛋白增高的相关B淋巴细胞疾病,特别是MYD88^(L265P)与CXCR4^(1013G)双突变的华氏巨球蛋白血症,应早期干预,避免诱发vWD,从而减轻患者出血症状,提高其生存质量。A 59-year-old male patient was admitted to hospital because of“repeated skin and mucosal bleeding for more than 3 years”.The patient had a history of nasal bleeding caused by external force,and it was difficult to stop spontaneously.According to coagulation-related tests,the initial diagnosis was typeⅠvon Willebrand disease(vWD).After related examinations,it was found that immunoglobulin M(IgM)markedly elevated,and the diagnosis was confirmed as Waldenstrom macroglobulinemia(WM).Both the the mutations of L265P in myeloid differentiation primary response 88(MYD88)and c.1013C>G in chemokine C-X-C motif receptor 4(CXCR4)were found through testing.After active treatment of the primary disease,no bleeding symptoms appeared again.vWD is a rare acquired bleeding disease.Most cases are caused by the acceleration of von Willebrand factor(vWF)clearance induced by inhibitors in the circulation.In B lymphocyte diseases such as WM,IgM in the circulation may accelerate the clearance of vWF.WM,which has the combined mutations of MYD88^(L265P) and CXCR4^(1013G),will be more likely to develop secondary vWD because of its heavy load of tumor cells and higher IgM levels.The introduction of the case is helpful for medical staff to be alert to the existence of primary diseases during the diagnosis of vWD.At the same time,when diagnosing and treating the B lymphocyte diseases related with increased immune globulins,especially the WM that has the combined mutations of MYD88^(L265P) and CXCR4^(1013G),it is necessary to take early intervention to avoid inducing vWD,thereby reducing the bleeding symptoms of patients and improving their quality of life.

关 键 词：血管性血友病 血管性血友病因子 巨球蛋白血症 免疫球蛋白M 

分 类 号：R733.1[医药卫生—肿瘤]