Department of Paediatrics, Bradford Royal Infirmary, West Yorkshire, UK.
The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
J Thromb Haemost. 2022 Jul;20(7):1735-1743. doi: 10.1111/jth.15732. Epub 2022 May 15.
Severe congenital protein C deficiency (SCPCD) is rare and there is currently substantial variation in the management of this condition. A joint project by three Scientific and Standardization Committees of the ISTH: Plasma Coagulation Inhibitors, Pediatric/Neonatal Thrombosis and Hemostasis, and Women's Health Issues in Thrombosis and Hemostasis, was developed to review the current evidence and help guide on diagnosis and management of SCPCD. We provide a summary of the clinical presentations, differential diagnoses, appropriate investigations to confirm the diagnosis, approaches for management of the acute situation, and options for long-term management including subsequent pregnancies. We finally provide a set of recommendations to help in this regard.
严重先天性蛋白 C 缺乏症（SCPCD）较为罕见，目前对这种病症的治疗方法存在较大差异。ISTH 的三个科学和标准化委员会（血浆凝血抑制剂、儿科/新生儿血栓形成和止血以及血栓形成和止血中的妇女健康问题）联合开展了一个项目，旨在审查现有证据并为 SCPCD 的诊断和治疗提供指导。我们总结了该病的临床表现、鉴别诊断、确诊所需的适当检查、急性情况的处理方法以及包括后续妊娠在内的长期管理选择。最后，我们提出了一套建议来帮助处理这种情况。
