Taveras Alam Sara, Alexis Karenza, Sridharan Ashwin, Strakhan Marianna, Elrafei Tarek, Gralla Richard J, Reed Louis J
Department of Internal Medicine, Albert Einstein College of Medicine, Jacobi Medical Center, Bronx, NY 10461, USA.
Division of Hematology and Oncology, Albert Einstein College of Medicine, Jacobi Medical Center and Montefiore Medical Center, Bronx, NY 10461, USA.
Case Rep Hematol. 2014;2014:208597. doi: 10.1155/2014/208597. Epub 2014 Dec 7.
Acquired von Willebrand syndrome (AVWS) is an uncommon, underdiagnosed, and heterogeneous disease which is increasingly recognized as a cause of bleeding diatheses. Systemic lupus erythematosus (SLE) is an infrequent cause of AVWS. Herein, we report a case of AVWS diagnosed during the initial presentation of SLE in a previously healthy young man with no family history of bleeding diathesis who presented with worsening epistaxis, gastrointestinal bleeding, and anasarca. He was found to have severe anemia and prolonged activated partial thromboplastin time (aPTT) with severely decreased levels of von Willebrand factor (VWF) measurements in addition to markedly decreased factor VIII levels. Further evaluation revealed nephrotic syndrome and interstitial lung disease due to SLE. He initially received combination therapy with intravenous immunoglobulin (IVIG) and von Willebrand factor/factor VIII concentrates without significant improvement. Treatment with steroids, cyclophosphamide, and rituximab was followed by clinical improvement evidenced by cessation of bleeding. The short follow-up did not allow us to definitely prove the therapeutic effect of immunosuppressive treatment on AVWS in SLE patients. This case adds to the literature supporting the relationship between AVWS and SLE and highlights the importance of combination therapy in the treatment of severe AVWS as well as the role of IVIG, cyclophosphamide, and rituximab in AVWS associated with SLE.
获得性血管性血友病综合征(AVWS)是一种罕见、诊断不足且异质性的疾病,越来越被认为是出血性疾病的一个病因。系统性红斑狼疮(SLE)是AVWS的一个不常见病因。在此,我们报告一例在一名既往健康、无出血性疾病家族史的年轻男性初次出现SLE时被诊断为AVWS的病例,该患者表现为鼻出血加重、胃肠道出血和全身性水肿。除了明显降低的因子VIII水平外,还发现他患有严重贫血、活化部分凝血活酶时间(aPTT)延长以及血管性血友病因子(VWF)水平严重降低。进一步评估显示因SLE导致的肾病综合征和间质性肺病。他最初接受了静脉注射免疫球蛋白(IVIG)和血管性血友病因子/因子VIII浓缩物的联合治疗,但无明显改善。使用类固醇、环磷酰胺和利妥昔单抗治疗后,出血停止,临床症状改善。短期随访未能让我们明确证明免疫抑制治疗对SLE患者AVWS的治疗效果。该病例补充了支持AVWS与SLE之间关系的文献,并强调了联合治疗在严重AVWS治疗中的重要性以及IVIG、环磷酰胺和利妥昔单抗在与SLE相关的AVWS中的作用。