Kubisz Peter, Plamenova Ivana, Holly Pavol, Stasko Jan
Department of Hematology and Transfusion Medicine, Jessenius Faculty of Medicine of the Comenius University and University Hospital Martin, Kollarova 2, Martin 036 59, Slovakia.
J Med Case Rep. 2012 Oct 11;6:350. doi: 10.1186/1752-1947-6-350.
The development of factor VIII inhibitors is a serious complication of replacement therapy in patients with congenital hemophilia A. Immune tolerance induction has been accepted as the only clinically proven treatment allowing antigen-specific tolerance to factor VIII. However, some of its issues, such as patient selection, timing, factor VIII dosing, use of immunosuppressive or immunomodulatory procedures, still remain the subject of debate.
A case of a 3-year-old Caucasian boy with severe congenital hemophilia A, intron 22 inversion of the F8 gene and high-titer inhibitor, who underwent an immune tolerance induction according to the modified Bonn regimen (high doses of plasma-derived factor VIII rich in von Willebrand factor and pulsed intravenous immunoglobulin) is presented. The treatment lasted for 13 months and led to the eradication of inhibitor.
Addition of intravenous immunoglobulin did not negatively affect the course of immune tolerance induction and led to the rapid eradication of factor VIII inhibitor.
因子VIII抑制剂的产生是先天性A型血友病患者替代治疗的严重并发症。免疫耐受诱导已被公认为唯一经临床验证的能使机体产生针对因子VIII抗原特异性耐受的治疗方法。然而，其一些问题，如患者选择、时机、因子VIII剂量、免疫抑制或免疫调节程序的使用，仍然是争论的焦点。
本文报告了一名3岁患有严重先天性A型血友病、F8基因内含子22倒位且抑制剂滴度高的白人男孩，其按照改良的波恩方案（高剂量富含血管性血友病因子的血浆源性因子VIII和脉冲式静脉注射免疫球蛋白）进行免疫耐受诱导治疗。治疗持续了13个月，最终成功根除了抑制剂。
添加静脉注射免疫球蛋白并未对免疫耐受诱导过程产生负面影响，且能迅速根除因子VIII抑制剂。
