Almatar Eman, Alsharidah Sondus, Hashem Omnia A
Department of Hematology, NBK Specialized Children's Hospital, Kuwait.
Blood Coagul Fibrinolysis. 2025 Sep 1;36(6):293-295. doi: 10.1097/MBC.0000000000001380. Epub 2025 Jul 17.
Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet function disorder resulting from qualitative or quantitative defects in the GPIIb/IIIa (integrin αIIbβ3) complex. Patients typically present with mucocutaneous bleeding. Standard treatment involves antifibrinolytic agents and platelet transfusions; however, repeated transfusions may lead to alloimmunization and platelet refractoriness. Recombinant activated factor VIIa (rFVIIa; NovoSeven) offers an alternative hemostatic approach. We present two pediatric cases of GT managed with rFVIIa. The first case involves a 12-year-old female with a strong family history of GT, who initially responded well to rFVIIa prophylaxis but later experienced increased bleeding episodes during puberty. The second case is a 20-year-old male with a history of mucocutaneous bleeding, who achieved long-term bleeding control on regular rFVIIa prophylaxis. Both patients demonstrated reduced bleeding frequency and improved quality of life without thromboembolic complications. These cases underscore the therapeutic potential and safety of rFVIIa in managing bleeding episodes and preventing alloimmunization in GT, particularly when platelet transfusions are ineffective or contraindicated, and highlight the importance of individualized treatment approaches and the need for further research to refine prophylactic regimens in GT.
Glanzmann血小板无力症(GT)是一种罕见的常染色体隐性血小板功能障碍,由糖蛋白IIb/IIIa(整合素αIIbβ3)复合物的定性或定量缺陷引起。患者通常表现为黏膜皮肤出血。标准治疗包括抗纤溶药物和血小板输注;然而,反复输注可能导致同种免疫和血小板不应性。重组活化因子VIIa(rFVIIa;诺其)提供了一种替代的止血方法。我们介绍了两例用rFVIIa治疗的GT儿科病例。第一例是一名12岁女性,有很强的GT家族史,最初对rFVIIa预防反应良好,但后来在青春期出血发作增加。第二例是一名20岁男性,有黏膜皮肤出血史,通过定期rFVIIa预防实现了长期出血控制。两名患者的出血频率均降低,生活质量得到改善,且无血栓栓塞并发症。这些病例强调了rFVIIa在治疗GT出血发作和预防同种免疫方面的治疗潜力和安全性,特别是在血小板输注无效或禁忌时,并突出了个体化治疗方法的重要性以及进一步研究以完善GT预防方案的必要性。