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隐匿性渗出性淤斑和瘀斑性淤斑。

Cryptogenic oozers and bruisers.

机构信息

Department of Pathology, University of Utah, Salt Lake City, UT.

ARUP Laboratories, Salt Lake City, UT.

出版信息

Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):85-91. doi: 10.1182/hematology.2021000236.

Abstract

Bleeding disorders with normal, borderline, or nondiagnostic coagulation tests represent a diagnostic challenge. Disorders of primary hemostasis can be further evaluated by additional platelet function testing modalities, platelet electron microscopy, repeat von Willebrand disease testing, and specialized von Willebrand factor testing beyond the usual initial panel. Secondary hemostasis is further evaluated by coagulation factor assays, and factor XIII assays are used to diagnose disorders of fibrin clot stabilization. Fibrinolytic disorders are particularly difficult to diagnose with current testing options. A significant number of patients remain unclassified after thorough testing; most unclassified patients have a clinically mild bleeding phenotype, and many may have undiagnosed platelet function disorders. High-throughput genetic testing using large gene panels for bleeding disorders may allow diagnosis of a larger number of these patients in the future, but more study is needed. A logical laboratory workup in the context of the clinical setting and with a high level of expertise regarding test interpretation and limitations facilitates a diagnosis for as many patients as possible.

摘要

伴有正常、临界或非诊断性凝血检测的出血性疾病具有诊断挑战性。可以通过其他血小板功能检测方式、血小板电子显微镜检查、重复血管性血友病检测以及超出常规初始检测面板的特殊血管性血友病因子检测来进一步评估原发性止血障碍。可以通过凝血因子检测进一步评估继发性止血,并且可以使用因子 XIII 检测来诊断纤维蛋白凝块稳定障碍。目前的检测方法尤其难以诊断纤维蛋白溶解障碍。在进行全面检查后,仍有相当数量的患者无法分类;大多数未分类的患者具有临床轻度出血表型,许多患者可能存在未诊断的血小板功能障碍。未来,使用大型基因面板进行高通量基因检测可能会为更多的患者做出诊断,但仍需要进一步研究。在临床环境下,结合高水平的测试解读和局限性专业知识,进行逻辑化的实验室检测有助于尽可能多的患者做出诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e22/8791136/f5b2eed23d7c/hem.2021000236_s1.jpg

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