Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Department of Medicine, Division of Hematology-Oncology, University of Pennsylvania, Pennsylvania, Philadelphia.
Blood Coagul Fibrinolysis. 2024 Jun 1;35(4):206-208. doi: 10.1097/MBC.0000000000001298. Epub 2024 Mar 26.
Type 3 von Willebrand disease (T3VWD) is a rare inherited bleeding disorder caused by the absence of von Willebrand factor (VWF). The traditional treatment for T3VWD has been VWF concentrates, but their effectiveness may be limited due to the development of alloantibodies. Emicizumab, a bispecific mAb, has shown promise in treating hemophilia A and is being studied as prophylaxis for T3VWD. In this case series, two patients with T3VWD received emicizumab prophylaxis and experienced a significant reduction in bleeding episodes and improved quality of life with fewer healthcare encounters. Although breakthrough bleeding was rare, one patient experienced a terminal intracranial bleed. Despite limited clinical experience with emicizumab in T3VWD, these cases suggest that emicizumab may be a valuable prophylactic option for patients with T3VWD. Further research is needed to determine the long-term efficacy and safety profile of emicizumab and optimal therapy for breakthrough bleeds in this patient population.
3 型血管性血友病（T3VWD）是一种罕见的遗传性出血性疾病，由血管性血友病因子（VWF）缺失引起。T3VWD 的传统治疗方法是使用 VWF 浓缩物，但由于产生了同种抗体，其疗效可能受到限制。双特异性 mAb 依库珠单抗在治疗 A 型血友病方面显示出良好的效果，并正在作为 T3VWD 的预防药物进行研究。在本病例系列中，两名 T3VWD 患者接受了依库珠单抗预防治疗，出血发作显著减少，生活质量得到改善，就诊次数减少。尽管突破性出血罕见，但有 1 名患者发生了终末期颅内出血。尽管依库珠单抗在 T3VWD 中的临床经验有限，但这些病例表明，依库珠单抗可能是 T3VWD 患者有价值的预防选择。需要进一步研究以确定依库珠单抗的长期疗效和安全性，并确定该患者人群中突破性出血的最佳治疗方法。
