血液病聚焦中的罕见凝血病:孤立的因子 V 缺乏症和因子 V 和 VIII 合并缺乏症。

Pub Date : 2024-04-01 Epub Date: 2024-05-24 DOI:10.4103/ijabmr.ijabmr_67_24
Nandhini Gangadaran, Mithraa Devi Sekar, Vidhyalakshmi Rangarajan, Prabhu Manivannan
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引用次数: 0

摘要

罕见的凝血障碍给诊断带来了巨大挑战,强调了临床警惕性和细致止血检查对准确诊断和及时治疗的重要性。我们介绍了两例异常罕见的凝血病--孤立的 V 因子缺乏症(F5D)和 V 和 VIII 合并因子缺乏症(F5F8D)。病例 1 是一名 24 岁女性,在卵巢囊肿术前常规评估中意外被诊断出患有严重的 F5D。尽管没有任何出血表现的报告,但还是得到了及时准确的诊断。围手术期使用新鲜冰冻血浆和术后监测确保了良好的手术效果。病例 2 患者为一名 10 岁男性,牙龈出血时间较长。经过系统的止血检查,确诊为 F5F8D,从而为最佳治疗干预提供了指导。在此,我们希望为了解凝血生理学、罕见凝血疾病的复杂诊断和管理策略提供有价值的见解。
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Rare Coagulopathies in Hematologic Spotlight: Isolated Factor V Deficiency and Combined Factor V and VIII Deficiency.

Rare coagulation disorders pose significant diagnostic challenges emphasizing the importance of clinical vigilance and meticulous hemostatic workup for accurate diagnosis and timely management. We present two cases of exceptionally uncommon coagulopathies - isolated factor V deficiency (F5D) and combined factor V and VIII deficiency (F5F8D). Case 1 features a 24-year-old woman incidentally diagnosed with severe F5D during routine preoperative evaluation for an ovarian cyst. Despite the absence of any reported bleeding manifestations, a timely and accurate diagnosis was rendered. Perioperative management with fresh frozen plasma and postoperative monitoring ensured favorable surgical outcomes. Case 2 features a 10-year-old male presenting with prolonged gum bleeding. Following systematic hemostatic workup, a diagnosis of F5F8D was rendered, thereby guiding optimal therapeutic interventions. We herein aim to contribute valuable insights into the understanding of coagulation physiology and the diagnostic intricacies and management strategies of rare coagulation disorders.

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