Jie Yan1, Donghong Deng2, Peng Cheng2, Lin Liao2, Meiling Luo1, Faquan Lin1. 1. Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. 2. Department of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Abstract
BACKGROUND: 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%). METHODS: 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. RESULTS: 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. CONCLUSION: Dysfibrinogenemia patients without personal or family history of bleeding and thromboembolic events, do not need specific therapeutic intervention.
BACKGROUND: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%). METHODS: 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. RESULTS: 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. CONCLUSION:Dysfibrinogenemiapatients without personal or family history of bleeding and thromboembolic events, do not need specific therapeutic intervention.
Authors: Andrew D Mumford; Sam Ackroyd; Raza Alikhan; Louise Bowles; Pratima Chowdary; John Grainger; Jason Mainwaring; Mary Mathias; Niamh O'Connell Journal: Br J Haematol Date: 2014-08-06 Impact factor: 6.998