The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH
The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH
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DOI：
10.1111/jth.14315
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发表时间：
2018-12-01
影响因子：
10.4
通讯作者：
Fijnvandraat, K.
中科院分区：
文献类型：
--
作者：
Makris, M.;Oldenburg, J.;Fijnvandraat, K.
乍一看，A 型血友病的诊断是显而易见的，被定义为因子 VIII 活性缺乏。国际血栓与止血学会 (ISTH) 的国际公认定义对我们很有帮助，特别是在区分严重与非严重血友病方面 [1]。该国际定义认为轻度血友病 A 具有 FVIII：C> 5 IU dL ±1 且< 40 IU dL±1，但未指定所使用的检测类型 [1]。然而，从上限来看，情况并不那么容易或明确，因为许多突变可能导致分子功能失调，并且不同的 FVIII 检测可能会产生不同的 FVIII: C 结果 [2]。 FVIII: C 的每日变异性、FVIII 随着年龄、炎症的增加以及急性期反应导致的增加而产生额外的复杂性 [3]，导致即使在具有相同 F8 基因型的患者中也存在不同的个体间和个体内因子水平 [4]。一些 FVIII: C 水平高于 40 IU dL ±1（即 0.4 IU mL ±1）的患者可能会比正常情况出血更多[5]。在家庭内部，血型差异可以部分解释 FVIII:C 水平的一些变化。尽管我们认为应保留最初的 ISTH 定义，但应根据以下建议进行修改。
At first sight the diagnosis of hemophilia A is obvious and is defined as a deficiency of factor VIII activity. The internationally accepted definition from the International Society of Thrombosis and Haemostasis (ISTH) has served us well, especially in separating severe from nonsevere hemophilia [1]. This international definition considers mild hemophilia A to have FVIII: C> 5 IU dL À1 and< 40 IU dLÀ1 without specifying the type of assay to be used [1]. At the upper end, however, the situation is not so easy or clear because many mutations can result in a dysfunctional molecule and the different FVIII assays may yield different FVIII: C results [2]. Additional complexity arises from day to day variability in FVIII: C, from the increase in FVIII with age, inflammation and also the increase as a result of the acute phase response [3], resulting in different inter-and intra-individual factor levels even among patients with the same F8 genotype [4]. Some patients can bleed more than normal with FVIII: C levels that are higher than 40 IU dL À1 (ie 0.4 IU mL À1)[5]. Within families, blood group differences can partially account for some of the variation in FVIII: C level. Although we believe the initial ISTH definition should be maintained, it should be modified in accordance with the following proposals.