Al-Ansari Rehab Y, Alofi Ghufran, Aljarah Nasser, Woodman Alexander
Adult Hematology Unit, Internal Medicine Department, King Fahad Military Medical City (KFMMC), Dhahran, Kingdom of Saudi Arabia.
Internal Medicine Department, King Fahad Military Medical City (KFMMC), Dhahran, Kingdom of Saudi Arabia.
SAGE Open Med Case Rep. 2022 Aug 3;10:2050313X221116676. doi: 10.1177/2050313X221116676. eCollection 2022.
Factor X deficiency is one of the rarest coagulation disorders representing 10% of all rare bleeding diseases with a frequency of 1:1,000,000. A 39-year-old male patient with no previous medical conditions was admitted to the hospital with a left carpal ganglion for surgical excision. Routine preoperative laboratory examination revealed a high international normalized ratio of 5.4 IU (0.8-1.1) and a prothrombin time of 72.2 s (10.9-13.6), with an isolated factor X level of less than 5%. Genetic testing for congenital factor X deficiency identified a homozygous mutation c.271 > A (p.Glu91). Vitamin K supplementation did not improve his international normalized ratio or increase factor X levels; hence, surgery was delayed. The patient was re-hospitalized to remove a wisdom tooth, during which fresh frozen plasma was administered. An allergic reaction complicated this procedure in the form of a rash on the body. As a result, the tooth was removed without active bleeding. This report presents a unique factor X deficiency case with limited treatment options to improve factor X levels after failed vitamin K administration and an allergic reaction to fresh frozen plasma. A physician's observation and ongoing follow-up were the only reasonable approaches in treating the patient with mild to moderate factor X deficiency due to lack of prothrombin complex concentrates or factor X replacement at the center at the time.
因子X缺乏症是最罕见的凝血障碍之一，占所有罕见出血性疾病的10%，发病率为1:1,000,000。一名39岁、既往无病史的男性患者因左腕腱鞘囊肿入院接受手术切除。术前常规实验室检查显示国际标准化比值高达5.4 IU（0.8 - 1.1），凝血酶原时间为72.2秒（10.9 - 13.6），孤立的因子X水平低于5%。先天性因子X缺乏症的基因检测发现纯合突变c.271＞A（p.Glu91）。补充维生素K并未改善其国际标准化比值或提高因子X水平；因此，手术推迟。患者再次住院拔除智齿，期间输注了新鲜冰冻血浆。该过程出现了以全身皮疹形式的过敏反应。结果，智齿在无活动性出血的情况下被拔除。本报告展示了一例独特的因子X缺乏症病例，在维生素K治疗失败且对新鲜冰冻血浆过敏后，提高因子X水平的治疗选择有限。由于当时中心缺乏凝血酶原复合物浓缩物或因子X替代物，对于轻度至中度因子X缺乏症患者，医生的观察和持续随访是唯一合理的治疗方法。
