Yan Jie, Deng Donghong, Cheng Peng, Liao Lin, Luo Meiling, Lin Faquan
Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Department of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
J Clin Lab Anal. 2018 Mar;32(3). doi: 10.1002/jcla.22319. Epub 2017 Sep 26.
Dysfibrinogenemia is a rare coagulation disorder caused by mutations in the fibrinogen gene that results in abnormal fibrinogen function. Dysfibrinogenemia has a wide spectrum of clinical manifestations including asymptomatic(55%), hemorrhage (25%), and thrombosis (20%).
We reported a 30-year-old woman with 35 weeks gestation. She was misdiagnosed with hypofibrinogenemia in a local hospital, and then she was treated with fibrinogen concentrate. However, she was diagnosed as dysfibrinogenemia in our hospital base on her low function fibrinogen level (0.55 g/L) and her normal immunologic fibrinogen level (3.80 g/L). This patient had neither bleeding symptom nor thromboembolic event. Her obstetrical history included one normal pregnancy in 2008 with uneventful full-term delivery.
Multidisciplinary experts suggested that there should be no specific intervention in this case because of the patient had no previous episodes of abnormal bleeding or thrombotic. She had an uneventful delivery with no abnormal bleeding symptom or thromboembolic.
Dysfibrinogenemia patients without personal or family history of bleeding and thromboembolic events, do not need specific therapeutic intervention.
异常纤维蛋白原血症是一种由纤维蛋白原基因突变引起的罕见凝血障碍,导致纤维蛋白原功能异常。异常纤维蛋白原血症有广泛的临床表现,包括无症状(55%)、出血(25%)和血栓形成(20%)。
我们报告了一名孕35周的30岁女性。她在当地医院被误诊为低纤维蛋白原血症,随后接受了纤维蛋白原浓缩物治疗。然而,在我院根据其低功能纤维蛋白原水平(0.55g/L)和正常免疫纤维蛋白原水平(3.80g/L),她被诊断为异常纤维蛋白原血症。该患者既无出血症状也无血栓栓塞事件。她的产科病史包括2008年一次正常妊娠,足月分娩顺利。
多学科专家建议,由于该患者既往无异常出血或血栓形成发作,此病例无需特殊干预。她分娩顺利,无异常出血症状或血栓栓塞。
无个人或家族出血及血栓栓塞事件史的异常纤维蛋白原血症患者,无需特殊治疗干预。