Othman Tamer, Abdelkarim Ayman, Huynh Karen, Uche An, Lee Jennifer
Department of Internal Medicine, Harbor-UCLA Medical Center, Torrance, CA, USA.
Division of Hematology and Medical Oncology, Harbor-UCLA Medical Center, Torrance, CA, USA.
Case Rep Hematol. 2019 Sep 25;2019:9657516. doi: 10.1155/2019/9657516. eCollection 2019.
Factor X deficiency is a rare bleeding disorder that varies in the severity of its clinical manifestations. The symptoms of this disorder can occur at any age, although most severe cases appear in childhood. The rarity of this condition has not allowed for the establishment of evidence-based management guidelines, and thus, individuals afflicted with factor X deficiency are treated based on limited literature and the opinions of clinicians with extensive experience. In this case report, we discuss a unique presentation of a 38-year-old male who was found to have cardiac tamponade as a result of his newly diagnosed inherited moderate factor X deficiency. This was discovered by obtaining a factor X activity assay and confirmed with genetic testing which demonstrated a missense variant on the factor X gene on chromosome 13. His management involved correction of his factor X deficiency with fresh frozen plasma, a pericardiocentesis, and placement of a pericardial window. He has been asymptomatic and without hemorrhagic episodes for the 10 months following his discharge.
因子X缺乏症是一种罕见的出血性疾病，其临床表现的严重程度各不相同。这种疾病的症状可在任何年龄出现，不过大多数严重病例出现在儿童期。由于这种疾病罕见，尚未制定基于证据的管理指南，因此，患有因子X缺乏症的个体只能根据有限的文献以及经验丰富的临床医生的意见进行治疗。在本病例报告中，我们讨论了一名38岁男性的独特病例，该患者因新诊断出的遗传性中度因子X缺乏症而出现心脏压塞。通过进行因子X活性测定发现了这一情况，并经基因检测证实，基因检测显示13号染色体上的因子X基因存在错义变异。他的治疗包括用新鲜冰冻血浆纠正因子X缺乏症、进行心包穿刺术以及放置心包开窗引流。出院后的10个月里，他一直没有症状，也没有出血发作。
