Department of Pediatric Hematology, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands.
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Pediatr Blood Cancer. 2017 Apr;64(4). doi: 10.1002/pbc.26276. Epub 2016 Oct 13.
Measurements of factor VIII coagulation activity (FVIII:C) may vary and result in misclassification of hemophilia A with delay in initiation of prophylactic treatment. We describe two young brothers who were diagnosed as moderate hemophilia patients and therefore not prophylactically treated with factor VIII concentrate despite frequent bleeding events. These findings emphasize the importance of (i) multiple measurements of FVIII:C by certified laboratories, (ii) adjustment of treatment when test results do not correspond to clinical symptoms, (iii) relevance of additional DNA mutation analysis in patients with hemophilia A, and (iv) treatment in centers with expertise.
凝血因子 VIII 活性（FVIII:C）的测量值可能存在差异，这可能导致对甲型血友病的误诊，并延迟预防性治疗的开始。我们描述了两名年轻的兄弟，他们被诊断为中度血友病患者，因此尽管经常发生出血事件，也没有预防性地使用凝血因子 VIII 浓缩物进行治疗。这些发现强调了以下几点的重要性：（i）由认证实验室进行多次 FVIII:C 测量；（ii）当测试结果与临床症状不对应时调整治疗；（iii）在甲型血友病患者中进行额外的 DNA 突变分析的相关性；以及（iv）在具有专业知识的中心进行治疗。
