Phenotypic heterogeneity of hemostasis in severe hemophilia.
Phenotypic heterogeneity of hemostasis in severe hemophilia.
复制标题
严重血友病止血的表型异质性。
DOI：
10.1055/s-0034-1395349
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发表时间：
2015
影响因子：
5.7
通讯作者：
Shima M.
中科院分区：
文献类型：
--
作者：
Nogami K;Shima M.
在约10%的重度血友病患者（凝血因子活性< 1%）中观察到出血模式和关节病减少。这些患者很少出血，并不总是需要治疗产品的预防性治疗，导致严重血友病患者出现广泛的关节损伤。迄今为止，已经在许多研究中研究了这种表型异质性的原因，但仍有待完全解决。重度血友病临床表型的巨大异质性似乎是多因素的，包括各种促凝血和抗凝因子水平的变化、凝血和纤溶系统之间的平衡、治疗产品的药代动力学、环境因素（包括生活方式活动）以及在较低水平凝血因子下测量的局限性。作为一种澄清的方法，研究的设计应评估一个同质队列的血友病A患者内含子22倒位谁不产生因子VIII。在未来，通过测量较低水平的凝血因子和评估整体凝血功能的组合，可能会更好地掌握血友病患者个体的止血凝血潜力，这反过来又有助于预测出血表型，并在其一生中指定适当和长期的止血管理。
A reduction in bleeding pattern and arthropathy appears to be observed in approximately 10% of the patients with severe hemophilia (< 1% clotting factor activity). These patients rarely bleed and do not always need prophylactic therapy of therapeutic products, resulting in the wide range of joint damage seen in patients with severe hemophilia. The cause(s) of this phenotypic heterogeneity has been investigated in many studies till date, but remains to be completely solved. The large heterogeneity of the clinical phenotype in severe hemophilia seems to be multifactorial, including variation in the levels of various procoagulant and anticoagulant factors, the balance between the coagulation and fibrinolysis systems, pharmacokinetics of therapeutic products, environmental factors including lifestyle activity, and the limitation of measurement at lower levels of clotting factors. As an approach toward clarification, studies should be designed to evaluate a homogenous cohort of hemophilic A patients with an intron 22 inversion who produce no factor VIII. In the future, by a combination of the measurement of lower levels of clotting factors and the evaluation of global clotting function, it might be possible to better grasp the potential of hemostatic coagulation in individual hemophilia patients, which should in turn be useful for the prediction of bleeding phenotype and the designation of adequate and long-term hemostatic management throughout their life.