Campbell Victoria, Marriott Kevin, Stanbridge Rex, Shlebak Abdul
Department of Haematology, Imperial College Healthcare NHS Trust, London W2 1NY, UK.
Department of Cardiothoracic Surgery, Imperial College Healthcare NHS Trust, London W2 1NY, UK.
Case Rep Hematol. 2015;2015:703803. doi: 10.1155/2015/703803. Epub 2015 Apr 19.
von Willebrand disease type 3 (VWD3) is a rare but the most severe form of von Willebrand disease; it is due to almost complete lack of von Willebrand factor activity (VWF:RCo). It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. In the laboratory, this is characterised by undetectable VWF:Ag, VWF:RCo, and reduced levels of factor VIII < 0.02 IU/dL. The bleeding is managed with von Willebrand/FVIII factor concentrate replacement therapy. In this rare but challenging case we report on the successful excision and repair of an ascending aortic aneurysm following adequate VWF/FVIII factor concentrate replacement using Haemate-P.
3型血管性血友病（VWD3）是一种罕见但最严重的血管性血友病形式；它是由于血管性血友病因子活性（VWF:RCo）几乎完全缺乏所致。它以常染色体隐性性状遗传；杂合子携带者症状轻微或无症状，而VWD3患者则表现出严重的出血症状。在实验室检查中，其特征是检测不到VWF:Ag、VWF:RCo，且凝血因子VIII水平降低<0.02 IU/dL。出血通过血管性血友病因子/凝血因子VIII浓缩物替代疗法进行治疗。在这个罕见但具有挑战性的病例中，我们报告了在使用海莫特-P充分替代VWF/凝血因子VIII浓缩物后，成功切除并修复升主动脉瘤的情况。
