不同实验室诊断 1 型血管性血友病标准的定量影响。
Quantitative impact of using different criteria for the laboratory diagnosis of type 1 von Willebrand disease.
机构信息
Department of Clinical Laboratory, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
出版信息
J Thromb Haemost. 2014 Aug;12(8):1238-43. doi: 10.1111/jth.12594. Epub 2014 Jun 27.
INTRODUCTION
Only ± 50% of patients with type 1 von Willebrand disease (VWD) have recognized molecular defects and diagnosis still rests on demonstrating low plasma von Willebrand factor (VWF) protein/function. However, no generalized consensus exists regarding the type and number of VWF variables that should be considered for diagnosis.
AIM
To compare the quantitative impact of four different criteria to diagnose type 1 VWD.
METHODS
We tested four laboratory criteria on 4298 laboratory studies during a 5-year period. The first was the National Heart, Lung, and Blood Institute recommendation, which diagnoses type 1 VWD with plasma VWF antigen (VWF:Ag) and VWF ristocetin cofactor (VWF:RCo) < 30 IU dL(-1) and possible VWD/'low VWF' with values between 30 and 50 IU dL(-1) . Second, diagnosis was established when two of three variables, VWF:Ag, VWF:RCo, VWF collagen binding assay (VWF:CB), were ≤ 2.5th percentile. Diagnostic criterion for possible VWD/'low VWF' using percentiles was also described. The third criterion (European Group on von Willebrand Disease, EUVWD), uses a plasma level of VWF:RCo (or VWF:CB) ≤ 40 IU dL(-1) for diagnosis. Finally, the Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCBVWD) diagnoses VWD if VWF:Ag or VWF:RCo are ≤ 40 IU dL(-1) .
RESULTS
The three assays had high correlation and excellent agreement at levels < 120 IU dL(-1) . The National Heart, Lung, and Blood Institute recommendation was followed to diagnose 122 (2.8%) patients with type 1 VWD and 704 (16.4%) with possible VWD/'low VWF.' Using percentiles, the diagnosis of type 1 VWD increased to 280 (6.5%) patients; 169 (3.9%) patients had possible VWD and 180 (4.2%) patients had 'low VWF.' Diagnoses using EUVWD and ZPMCBVWD criteria increased to 339 (7.9%) and 357 (8.3%) patients, respectively.
DISCUSSION
Identical data, analyzed using different criteria, led to almost three-fold difference (2.8-8.3%) in diagnostic rate. This increase is mostly explained by increasing the cut-off values of VWF measurements from < 30 to ≈ 40 IU dL(-1) . Further refinement of the laboratory diagnosis of type 1 VWD is a priority.
简介
仅有约 50%的 1 型血管性血友病（VWD）患者存在明确的分子缺陷，目前的诊断仍依赖于血浆血管性血友病因子（VWF）蛋白/功能降低。然而，对于应该考虑哪些 VWF 变量来进行诊断，目前尚无普遍共识。
目的
比较四种不同标准对 1 型 VWD 进行定量诊断的效果。
方法
在 5 年期间，我们对 4298 项实验室研究检测了四种实验室标准。首先，美国国家心肺血液研究所（National Heart, Lung, and Blood Institute）推荐使用血浆血管性血友病因子抗原（VWF:Ag）和 VWF 瑞斯托霉素辅因子（VWF:RCo）<30 IU/dL（<95 nmol/L）来诊断 1 型 VWD，VWF:Ag 和 VWF:RCo 水平在 30-50 IU/dL（95-165 nmol/L）之间时诊断为可能的 VWD/“低 VWF”。还描述了使用百分位数诊断可能的 VWD/“低 VWF”的标准。第二项标准是当两种或三种变量，即 VWF:Ag、VWF:RCo 和 VWF 胶原结合试验（VWF:CB）中的两项或三项，≤2.5 百分位时，即可诊断。使用百分位数诊断可能的 VWD/“低 VWF”的标准也进行了描述。第三种标准（欧洲血管性血友病工作组，EUVWD）使用 VWF:RCo（或 VWF:CB）≤40 IU/dL（≤120 nmol/L）进行诊断。最后，血管性血友病分子和临床生物学计划（Zimmerman Program for the Molecular and Clinical Biology of VWD，ZPMCBVWD）将 VWF:Ag 或 VWF:RCo≤40 IU/dL（≤120 nmol/L）时诊断为 VWD。
结果
三种检测方法在<120 IU/dL（<360 nmol/L）水平时具有高度相关性和极好的一致性。按照美国国家心肺血液研究所的建议，诊断出 122 例（2.8%）1 型 VWD 和 704 例（16.4%）可能的 VWD/“低 VWF”患者。使用百分位数时，1 型 VWD 患者增加至 280 例（6.5%）；169 例（3.9%）患者为可能的 VWD，180 例（4.2%）患者为“低 VWF”。使用 EUVWD 和 ZPMCBVWD 标准，诊断为 339 例（7.9%）和 357 例（8.3%）患者。
讨论
使用不同的标准分析相同的数据，导致诊断率的差异接近三倍（2.8%-8.3%）。这种增加主要是通过将 VWF 测量值的截止值从<30 增加到约 40 IU/dL（<120 nmol/L）来解释的。进一步完善 1 型 VWD 的实验室诊断是当务之急。
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