Casari Caterina, Favier Remi, Legendre Paulette, Kauskot Alexandre, Adam Frederic, Picard Veronique, Lenting Peter T, Denis Cecile V, Proulle Valerie
INSERM_UMR S 1176, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Service Hématologie Biologique, Hôpital Trousseau, APHP, CRPP, Paris, France.
Ther Adv Hematol. 2022 Feb 16;13:20406207221076812. doi: 10.1177/20406207221076812. eCollection 2022.
This report describes the first case of splenic injury in a patient with p.V1316M-associated von Willebrand disease type 2B (VWD2B) with chronic thrombocytopenia, successfully treated with nonoperative management including von Willebrand factor (VWF) replacement therapy, and platelet transfusions relayed by a thrombopoietin receptor agonist (TPO-RA, Eltrombopag). Eltrombopag was initially introduced to rescue an unusual post-platelet-transfusion reaction exacerbating the thrombocytopenia. In-depth analysis of the dramatic platelet count drop and VWF measurements timeline ruled out an allo-immune reaction and supported an alternative hypothesis of a sudden platelet clearance as a consequence of stress-induced release of abnormal VWF. One year later, a second life-threatening bleeding episode required urgent surgery successfully managed with VWF replacement therapy and platelet transfusions. Eltrombopag was further introduced in the post-surgery period to allow bleeding-free and platelet-transfusion-free successful recovery. Treatment decisions are particularly challenging in patients with VWD2B, and this case highlights how such decisions can benefit from understanding the molecular origin of platelet count fluctuations observed in these patients. Here, we successfully used a new therapeutic approach combining VWF-replacement therapy and initial platelet-transfusion relayed by TPO-RA to optimize patient management.
A combination of von Willebrand factor replacement and thrombopoietin receptor agonist in thrombocytopenic patients with von Willebrand disease type 2B: a new therapy approach to optimize patient management?Therapeutic management of patients with von Willebrand disease type 2B are particularly challenging in case of severe thrombocytopenia.Treatment includes von Willebrands factor replacement therapy and iterative platelet transfusions.We describe the first case of splenic injury in a patient with p.V1316M-associated von Willebrand disease type 2B successfully treated with nonoperative management including von Willebrand factor replacement therapy and platelet transfusions relayed by a thrombopoietin receptor agonist.We showed that the unusual post-platelet-transfusion reaction associated with a dramatic platelet count drop was a consequence of stress-induced release of abnormal von Willebrand factor.The combination of von Willebrand factor replacement therapy and thrombopoietin receptor agonist may offer a new therapeutic approach to optimize patient management.
本报告描述了首例患有与p.V1316M相关的2B型血管性血友病（VWD2B）且伴有慢性血小板减少症的患者发生脾损伤的病例，该病例通过包括血管性血友病因子（VWF）替代疗法和血小板生成素受体激动剂（TPO-RA，艾曲泊帕）介导的血小板输注在内的非手术治疗成功治愈。最初引入艾曲泊帕是为了挽救一种不寻常的血小板输注后反应，该反应加剧了血小板减少症。对血小板计数急剧下降和VWF测量时间线的深入分析排除了同种免疫反应，并支持了另一种假设，即由于应激诱导异常VWF释放导致血小板突然清除。一年后，第二次危及生命的出血事件需要紧急手术，通过VWF替代疗法和血小板输注成功处理。术后进一步引入艾曲泊帕，以实现无出血且无需血小板输注的成功康复。对于VWD2B患者，治疗决策尤其具有挑战性，该病例突出了此类决策如何能从理解这些患者中观察到的血小板计数波动的分子起源中获益。在此，我们成功使用了一种新的治疗方法，将VWF替代疗法与TPO-RA介导的初始血小板输注相结合，以优化患者管理。
2B型血管性血友病血小板减少患者中血管性血友病因子替代与血小板生成素受体激动剂的联合应用：一种优化患者管理的新治疗方法？在严重血小板减少的情况下，2B型血管性血友病患者的治疗管理尤其具有挑战性。治疗包括血管性血友病因子替代疗法和反复的血小板输注。我们描述了首例患有与p.V1316M相关的2B型血管性血友病的患者发生脾损伤的病例，该病例通过包括血管性血友病因子替代疗法和血小板生成素受体激动剂介导的血小板输注在内的非手术治疗成功治愈。我们表明，与血小板计数急剧下降相关的不寻常的血小板输注后反应是应激诱导异常血管性血友病因子释放的结果。血管性血友病因子替代疗法和血小板生成素受体激动剂的联合应用可能提供一种优化患者管理的新治疗方法。
