Is my patient a bleeder? A diagnostic framework for mild bleeding disorders
Is my patient a bleeder? A diagnostic framework for mild bleeding disorders
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DOI：
10.1182/asheducation-2012.1.466
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发表时间：
2012-12-01
影响因子：
3
通讯作者：
Mezzano, Diego
中科院分区：
文献类型：
--
作者：
Quiroga, Teresa;Mezzano, Diego
先天性轻度出血性疾病（MBD）非常普遍，是常见的诊断问题的来源。大多数MBD被归类为原发性止血疾病（即1型VWD和血小板功能障碍），但也包括轻度或中度凝血因子缺乏和一些罕见的纤溶亢进疾病。这些患者在创伤、侵入性操作和手术后有皮肤和粘膜的异常出血、月经过多和不成比例的扩张。本文综述了医生和止血实验室在诊断这些患者时面临的主要问题，包括：从病理性出血中辨别正常/适当的出血，筛查试验的作用和产量，不同疾病之间缺乏独特的出血模式，诊断1型VWD和最常见的血小板功能障碍的固有困难，测量血小板聚集和分泌的测定方法的改进，以及大多数MBD患者在详尽和重复的实验室测试后最终没有明确诊断的证据。需要大量的研究来确定MBD患者出血的发病机制。更好地标准化目前的实验室检测，在纤溶机制的知识和实验室评估的进展，以及对血小板-血管壁相互作用的因素的新认识，沿着相应的实验室工具的发展，应该提高我们的能力，诊断更大比例的MBD患者。
Congenital mild bleeding disorders (MBDs) are very prevalent and are the source of frequent diagnostic problems. Most MBDs are categorized as disorders of primary hemostasis (ie, type 1 VWD and platelet function disorders), but mild or moderate deficiencies of clotting factors and some rare hyperfibrinolytic disorders are also included. These patients have abnormal bleeding from the skin and mucous membranes, menorrhagia, and disproportionate hemorrhages after trauma, invasive procedures, and surgery. This review addresses the main problems that physicians and hemostasis laboratories confront with the diagnosis of these patients, including: discerning normal/appropriate from pathological bleeding, the role and yield of screening tests, the lack of distinctive bleeding pattern among the different diseases, the inherent difficulties in the diagnosis of type 1 VWD and the most common platelet functional disorders, improvements in assays to measure platelet aggregation and secretion, and the evidence that most of the patients with MBDs end up without a definite diagnosis after exhaustive and repeated laboratory testing. Much research is needed to determine the pathogenesis of bleeding in MBD patients. Better standardization of current laboratory assays, progress in the knowledge of fibrinolytic mechanisms and their laboratory evaluation, and new understanding of the factors contributing to platelet-vessel wall interaction, along with the corresponding development of laboratory tools, should improve our capacity to diagnose a greater proportion of patients with MBDs.