Laboratory variability in the diagnosis of type 2 VWD variants.
Laboratory variability in the diagnosis of type 2 VWD variants.
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DOI：
10.1111/jth.15129
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发表时间：
2021-01
期刊：
影响因子：
--
通讯作者：
Zimmerman Program Investigators
中科院分区：
文献类型：
--
作者：
DiGiandomenico S;Christopherson PA;Haberichter SL;Abshire TC;Montgomery RR;Flood VH;Zimmerman Program Investigators
2型血管性血友病（VWD）是指血管性血友病因子（VWF）定性缺陷的患者。2型VWD亚型的准确诊断可能具有挑战性。比较2型VWD的历史诊断与当前的实验室检测。受试者因既存VWD诊断（回顾性队列）或因出血症状或疑似VWD评价（前瞻性队列）而入组齐默尔曼项目。初始诊断由当地中心分配，中心诊断基于中心实验室检测。回顾性队列中的217例索引病例和前瞻性队列中的35例受试者局部诊断为2型VWD（分别占入组索引病例的29%和6%）。在回顾性队列中，66%的既存诊断为2A、77%为2B、54%为2M和72%为2N的病例确诊。在前瞻性队列中，31%被确认为2A，60%为2B，23%为2M，100%为2N。在诊断改变的受试者中反复涉及几种遗传变异：p.M1304R、p.R1315C、p.R1374C和p.R1374H。前瞻性和回顾性队列均显示诊断在2A、2B和2M之间变化的受试者的一致变化。考虑到去氨加压素在2B型VWD中的潜在应用，准确诊断2型VWD的重要性在2B亚型中可能最为显著。一些遗传变异出现在多种类型的VWD中，使特定诊断具有挑战性。
Type 2 von Willebrand disease (VWD) refers to patients with a qualitative defect in von Willebrand factor (VWF). Accurate diagnosis of type 2 VWD subtypes can be challenging. to compare the historical diagnosis of type 2 VWD with current laboratory testing. Subjects were enrolled in the Zimmerman Program either due to a pre-existing diagnosis of VWD (retrospective cohort) or due to evaluation for bleeding symptoms or suspected VWD (prospective cohort). Original diagnosis was assigned by the local center and central diagnosis was based on central laboratory testing. 217 index cases in the retrospective cohort and 35 subjects in the prospective cohort carried a local diagnosis of type 2 VWD (29% and 6% of enrolled index cases respectively). In the retrospective cohort, the diagnosis was confirmed in 66% of cases with a pre-existing diagnosis of 2A, 77% 2B, 54% 2M, and 72% 2N. In the prospective cohort, 31% were confirmed 2A, 60% 2B, 23% 2M, and 100% 2N. Several genetic variants were repeatedly implicated in subjects with changed diagnosis: p.M1304R, p.R1315C, p.R1374C, and p.R1374H. Both the prospective and retrospective cohorts demonstrated consistent variation in subjects whose diagnosis changed between 2A, 2B, and 2M. The importance of accurately diagnosing type 2 VWD may be most significant in the 2B subtype given potential concerns with the use of desmopressin in type 2B VWD. Some genetic variants appear in multiple types of VWD, making specific diagnoses challenging.
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