“无终点检测”:一个独特的凝血分析揭示异常纤维蛋白原血症。

IF 0.7 Q4 HEMATOLOGY
Case Reports in Hematology Pub Date : 2025-07-25 eCollection Date: 2025-01-01 DOI:10.1155/crh/8186265
Kelsey Uminski, Xiu Yan Jiang
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引用次数: 0

摘要

异常纤维蛋白原血症是一种罕见的定性纤维蛋白原疾病,可表现为出血、血栓形成或两者兼而有之。我们报告一例早期妊娠流产和严重出血的年轻女性,其凝血试验报告PT、PTT和Clauss纤维蛋白原检测“无终点检测”。这种模式应提示考虑严重的低纤维蛋白原血症或定性纤维蛋白原缺陷。纤维蛋白原替代使PT和PTT正常化,并产生可测量的纤维蛋白原水平,从而实现明确的诊断。不一致的活性和抗原水平,以及致病性FGB变异,证实纤维蛋白异常血症。该病例强调了在不可解释的凝血特征中考虑纤维蛋白原疾病并开始早期置换的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
"No End Point Detected": A Unique Coagulation Profile Unmasking Dysfibrinogenemia.

Dysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulation tests reported "no end point detected" on PT, PTT, and Clauss fibrinogen assays. This pattern should prompt consideration of profound hypofibrinogenemia or qualitative fibrinogen defects. Fibrinogen replacement normalized PT and PTT and yielded measurable fibrinogen levels, enabling definitive diagnosis. Discordant activity and antigen levels, along with a pathogenic FGB variant, confirmed dysfibrinogenemia. This case underscores the importance of considering fibrinogen disorders in uninterpretable coagulation profiles and initiating early replacement.

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