Moll S, Lazarowski A R, White G C
Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
Am J Hematol. 1998 Jan;57(1):62-7. doi: 10.1002/(sici)1096-8652(199801)57:1<62::aid-ajh11>3.0.co;2-b.
While patients with type 2B von Willebrand's disease often exhibit thrombocytopenia, platelet morphology is typically normal. We describe a 44-year-old Jamaican man with thrombocytopenia and a history of bleeding, who had giant platelets on his peripheral blood film. Functional studies and von Willebrand factor gene sequencing showed him to have type 2B von Willebrand's disease with a heterozygous point mutation resulting in a V553M (V1316M in the new von Willebrand factor gene mutation nomenclature) amino acid substitution. Family studies showed one of his two sisters to have an ill-defined giant-platelet-syndrome with mild thrombocytopenia, but not von Willebrand's disease, indicating that the association of giant platelets and von Willebrand's disease in our patient was most likely coincidental. This report describes the rare concurrence of two uncommon disorders. It also demonstrates how the thrombocytopenia of type 2B von Willebrand's disease can be misdiagnosed as ITP, leading to unnecessary and potentially harmful therapeutic interventions.
虽然2B型血管性血友病患者常表现为血小板减少，但血小板形态通常正常。我们描述了一名44岁的牙买加男子，他有血小板减少症且有出血史，其外周血涂片上有巨大血小板。功能研究和血管性血友病因子基因测序显示他患有2B型血管性血友病，存在杂合点突变，导致V553M（新的血管性血友病因子基因突变命名法中的V1316M）氨基酸替代。家族研究表明，他的两个姐妹中有一个患有定义不明确的巨大血小板综合征，伴有轻度血小板减少，但不是血管性血友病，这表明我们患者中巨大血小板与血管性血友病的关联很可能是巧合。本报告描述了两种罕见疾病的罕见同时发生情况。它还展示了2B型血管性血友病的血小板减少如何被误诊为免疫性血小板减少性紫癜，从而导致不必要的、可能有害的治疗干预。
