Enayat Mohammad S, Guilliatt Andrea M, Lester William, Wilde Jonathan T, Williams Michael D, Hill Frank G H
Department of Haematology, The Birmingham Children's Hospital NHS Trust, Birmingham, UK.
Br J Haematol. 2006 Jun;133(6):664-6. doi: 10.1111/j.1365-2141.2006.06078.x.
Pseudo-von Willebrand disease (p-VWD) and type 2B von Willebrand disease (VWD) have similar phenotypic parameters and clinical symptoms, but different aetiologies. Fourteen individuals from five families with a historical diagnosis of type 2B VWD but with no mutation in the von Willebrand factor gene were re-investigated for the possibility of p-VWD, using platelet aggregation in the presence of cryoprecipitate. p-VWD was confirmed by targeted DNA sequencing of the glycoprotein Ibalpha gene, identifying a heterozygous Glycine 233 Valine substitution. This study suggests that p-VWD may be under diagnosed, and that platelet aggregation in the presence of cryoprecipitate is useful in differentiating this disorder from type 2B VWD.
假性血管性血友病（p-VWD）和2B型血管性血友病（VWD）具有相似的表型参数和临床症状，但病因不同。对来自五个家庭的14名个体进行了重新调查，这些个体曾被诊断为2B型VWD，但血管性血友病因子基因无突变，通过在冷沉淀存在下检测血小板聚集来评估是否患有p-VWD。通过对糖蛋白Ibalpha基因进行靶向DNA测序，确认了p-VWD，发现了一个杂合的甘氨酸233缬氨酸替代。这项研究表明，p-VWD可能未得到充分诊断，并且在冷沉淀存在下检测血小板聚集有助于将这种疾病与2B型VWD区分开来。
