Jayakrishnan Thejus, Shah Deep, Mewawalla Prerna
Division of Hematology Oncology, Department of Medicine, Allegheny General Hospital, Pittsburgh, PA 15212, USA.
J Hematol. 2019 Sep;8(3):144-147. doi: 10.14740/jh522. Epub 2019 Sep 30.
Hemophilia C or factor XI deficiency is a rare clotting disorder with prevalence of only 1 per 1 million. A 24-year-old male with multiple abdominal surgeries complicated by wound infections and poor healing was admitted to plastic surgery service for an elective abdominoplasty. Hematology was consulted for increased intraoperative and postoperative bleeding. Laboratory workup showed high-normal activated plasma thromboplastin time of 31 s (reference: 23 - 34 s), prothrombin time (PT) of 15 s (reference: 11.8 - 14.3 s) and internationalized normal ratio (INR) of 1.2. Patient had normal factors VIII, IX, XIII levels and normal von Willebrand's factor level. The factor XI level came back at 0.28 (0.44 - 1.43 U/mL) diagnostic for intermediate factor XI deficiency. Factor XI is responsible for thrombin generation after clotting is initiated as well as clot stabilization. The confirmatory test is factor XI assay. The management of factor-XI deficiency is based on history of bleeding and nature of the procedure.
血友病C或因子XI缺乏症是一种罕见的凝血障碍，患病率仅为百万分之一。一名24岁男性，因多次腹部手术并发伤口感染且愈合不良，入住整形外科接受择期腹壁成形术。因术中及术后出血增加，咨询了血液科。实验室检查显示活化部分凝血活酶时间为31秒（参考值：23 - 34秒），处于正常高值，凝血酶原时间（PT）为15秒（参考值：11.8 - 14.3秒），国际标准化比值（INR）为1.2。患者的因子VIII、IX、XIII水平及血管性血友病因子水平均正常。因子XI水平为0.28（0.44 - 1.43 U/mL），诊断为中度因子XI缺乏症。因子XI在凝血启动后负责凝血酶的生成以及血凝块的稳定。确诊试验为因子XI测定。因子XI缺乏症的治疗基于出血史和手术性质。
