Neurosurgery, Swedish Neuroscience Institute, Seattle, WA, USA.
Transfusion, Bloodworks Northwest, Seattle, WA, USA.
Platelets. 2024 Dec;35(1):2380374. doi: 10.1080/09537104.2024.2380374. Epub 2024 Jul 23.
Dense-granule deficiency (DGD) is an inherited platelet disorder due to the absence of dense granules essential for activation of platelets in the event of vascular injury. Decreased platelet dense granules can be detected by electron microscopy, while other tests of hemostasis, including platelet function analyzer (PFA®) closure times, may be normal. The present case report describes a patient with a lifelong history of mucocutaneous bleeding and excessive hemorrhage with resection of vestibular Schwannoma. After hemostasis was obtained the case was aborted and the neurosurgeon noted bleeding resembled as if patient was on an antiplatelet drug. Subsequent hematologic workup revealed a severe platelet function disorder. There is a paucity of literature on management of intracranial neurosurgery in patients with inherited platelet disorders. Patients undergoing major surgical procedures often receive tranexamic acid (TXA), desmopressin, and/or human-leukocyte antigen (HLA)-matched platelet transfusions. We review the clinical management of intracranial tumor surgery, as well as Cyberknife radiosurgery, in our patient with DGD. After diagnosis was known, thoughtful hemostatic planning with empiric platelet transfusions and TXA prevented recurrent bleeding.
致密颗粒缺乏症(DGD)是一种遗传性血小板疾病,由于致密颗粒缺失,导致血管损伤时血小板无法激活。电子显微镜可检测到血小板致密颗粒减少,而其他止血功能检测,包括血小板功能分析仪(PFA®)闭合时间,可能正常。本病例报告描述了一名患者,其一生存在黏膜皮肤出血和前庭神经鞘瘤切除术后过度出血病史。止血后手术被中断,神经外科医生注意到出血类似于患者正在服用抗血小板药物。随后的血液学检查显示严重的血小板功能障碍。关于遗传性血小板疾病患者的颅内神经外科管理的文献很少。接受重大手术的患者通常会接受氨甲环酸(TXA)、去氨加压素和/或人类白细胞抗原(HLA)匹配的血小板输注。我们回顾了我们的 DGD 患者的颅内肿瘤手术以及 Cyberknife 放射外科手术的临床管理。在明确诊断后,我们通过经验性血小板输注和 TXA 的止血方案,防止了再次出血。