Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia.
Int J Lab Hematol. 2012 Feb;34(1):102-5. doi: 10.1111/j.1751-553X.2011.01362.x. Epub 2011 Jul 27.
Discrimination of types 1 and 2M von Willebrand disease (VWD) is problematic. Type 1 VWD represents a quantitative deficiency of von Willebrand factor and type 2M a qualitative disorder. 2M VWD is considered a potentially more serious bleeding disorder than type 1 VWD and may also require a differential management approach given the higher bleeding risk and that desmopressin may be less effective. We describe a case of 2M VWD 'masquerading' as type 1 and show how the differential diagnosis can be obtained using standard laboratory assays. The case was genetically confirmed as a 3943C>T mutation, leading to R1315C.
1 型和 2M 型血管性血友病（VWD）的鉴别存在问题。1 型 VWD 代表 von Willebrand 因子的定量缺乏，而 2M 型则代表质的异常。与 1 型 VWD 相比，2M VWD 被认为是一种更严重的出血性疾病，并且由于出血风险更高，且去氨加压素可能效果较差，因此可能需要采用不同的管理方法。我们描述了一个 2M VWD“伪装”成 1 型的病例，并展示了如何使用标准实验室检测获得鉴别诊断。该病例经基因确认为 3943C>T 突变，导致 R1315C。
