Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta; Department of Pediatrics, Emory University, Atlanta, GA, USA.
Mary M. Gooley Hemophilia Center, Rochester Regional Health, 1415 Portland Avenue, Rochester, NY 14621, USA.
Hematol Oncol Clin North Am. 2021 Dec;35(6):1181-1196. doi: 10.1016/j.hoc.2021.07.010. Epub 2021 Aug 10.
Although rare clotting factor deficiencies primarily referred to as rare bleeding disorders (RBD), including factors II, V, VII, and X, make up ∼5% of all inherited bleeding disorders worldwide, each of these clotting factors play a critical role in the coagulation cascade. Incomplete bleeding evaluation or misinterpretation of laboratory studies can result in delayed diagnoses that ultimately affect patient outcomes. Bleeding manifestations can range from mild to severe, but the most common are mucocutaneous bleeding. The ideal treatment in RBD is dedicated single-factor concentrates that can be used for acute bleeding events, surgical management, and prophylaxis.
虽然罕见的凝血因子缺乏症主要被称为罕见出血性疾病(RBD),包括因子 II、V、VII 和 X,但它们占全球所有遗传性出血性疾病的约 5%,这些凝血因子在凝血级联反应中都起着至关重要的作用。不完全的出血评估或对实验室研究的错误解读可能导致诊断延迟,最终影响患者的结局。出血表现可从轻度到重度不等,但最常见的是黏膜皮肤出血。RBD 的理想治疗方法是专用的单因子浓缩物,可用于急性出血事件、手术管理和预防。