Department of Medicine, Queen's University, Kingston, Ontario, Canada.
Curr Opin Hematol. 2012 Sep;19(5):406-12. doi: 10.1097/MOH.0b013e32835673ab.
Although recorded evidence of phenotyping bleeding disorders extends back two millennia, standardization of phenotyping has only begun in the past half century. This was spurred by the need for greater precision in diagnosing disorders in order to select proper laboratory tests and treatment, and the realization that the bleeding history provides prognostic information about the future risk of bleeding with surgery or invasive procedures.
New bleeding assessment tools (BATs) have been developed, firstly, to evaluate the relative bleeding risks associated with new anticoagulants and antiplatelet agents, secondly, to assess the efficacy of new thrombopoiesis stimulating agents in preventing hemorrhage in patients with immune thrombocytopenia, and finally, to assess complex gene-gene and gene-environment interactions. New web-based systems allow many researchers to collaborate by sharing the same electronic phenotyping infrastructure. Major issues of validation remain, but at present the data indicate that the new BATs have relatively high negative predictive value for excluding a significant bleeding disorder, but disappointingly low positive predictive values.
New instruments to phenotype bleeding have been developed to address a number of different important clinical and research goals. The improved standardization and opportunities for collaborative studies hold promise for maximizing diagnostic, prognostic, and scientific information.
尽管记录出血性疾病表型的证据可以追溯到两千年前，但表型标准化在过去半个世纪才刚刚开始。这是因为需要更精确地诊断疾病，以选择适当的实验室检查和治疗，并且认识到出血病史提供了关于手术或有创性操作未来出血风险的预后信息。
新的出血评估工具（BATs）首先是为了评估新型抗凝剂和抗血小板药物相关的相对出血风险，其次是评估新型促血小板生成素在预防免疫性血小板减少症患者出血方面的疗效，最后是评估复杂的基因-基因和基因-环境相互作用。新的基于网络的系统允许许多研究人员通过共享相同的电子表型基础设施进行合作。验证仍然存在重大问题，但目前的数据表明，新的 BATs 对于排除严重出血性疾病具有相对较高的阴性预测值，但令人失望的是阳性预测值较低。
已经开发出用于表型出血的新工具，以解决许多不同的重要临床和研究目标。标准化的提高和协作研究的机会为最大限度地提高诊断、预后和科学信息提供了希望。
