Jaouen Simon, Mingant Fanny, Pan-Petesch Brigitte, Lippert Eric, Jeanpierre Emmanuelle, Galinat Hubert
Hematology Laboratory, Brest University Hospital, Brest, France.
Department of Hematology, Brest University Hospital, Brest, France.
Res Pract Thromb Haemost. 2024 Jul 19;8(5):102516. doi: 10.1016/j.rpth.2024.102516. eCollection 2024 Jul.
Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder that usually mimics type 1 or 2A von Willebrand disease (VWD).
Can AVWS mimic the phenotype of type 2B VWD?
A 64-year-old male patient presented with thrombocytopenia, normal routine hemostasis results, and normal VWF antigen and factor VIII levels but reduced von Willebrand factor (VWF) activity (31 IU/dL). The ristocetin-induced platelet aggregation test showed paradoxical aggregation at low doses of ristocetin, suggesting type 2B VWD, but no deleterious sequence variation was found in either the or genes, compatible with AVWS. Serum protein electrophoresis revealed a monoclonal immunoglobulin G antibody.
This AVWS with a 2B phenotype VWD was probably related to a monoclonal immunoglobulin G antibody causing a VWF conformational change, resulting in increased affinity to platelet glycoprotein-Ib. In the event of surgery or bleeding, treatment with vonicog alfa seems to be the best option for this patient.
获得性血管性血友病综合征（AVWS）是一种罕见的出血性疾病，通常类似于1型或2A型血管性血友病（VWD）。
AVWS能否模仿2B型VWD的表型？
一名64岁男性患者出现血小板减少，常规止血结果正常，血管性血友病因子（VWF）抗原和因子VIII水平正常，但血管性血友病因子（VWF）活性降低（31 IU/dL）。瑞斯托霉素诱导的血小板聚集试验显示低剂量瑞斯托霉素时出现矛盾性聚集，提示2B型VWD，但在 或 基因中均未发现有害序列变异，符合AVWS。血清蛋白电泳显示单克隆免疫球蛋白G抗体。
这种具有2B表型VWD的AVWS可能与导致VWF构象改变的单克隆免疫球蛋白G抗体有关，导致对血小板糖蛋白-Ib的亲和力增加。在手术或出血的情况下，对该患者而言，使用冯考格因子治疗似乎是最佳选择。
