Division of Blood Vessel Surgery, The First Affiliated Hospital of Zhengzhou University, No. 1 of Jianshe East Road, Zhengzhou, 450052, China.
J Thromb Thrombolysis. 2020 Feb;49(2):312-315. doi: 10.1007/s11239-019-01958-y.
Congenital dysfibrinogenemia is characterized with undetectable or low fibrinogen level by Clauss assay complicated by bleeding and/or thrombosis. These may lead to a diagnostic problem to some clinicians unfamiliar with this disease. We reported a case of congenital dysfibrinogenemia manifested as hemorrhage, repeated thrombosis, low fibrinogen levels through Clauss assay and but normal levels of fibrinogen through PT-derived tests. In conclusion, to patients with thrombosis complicated by decreased fibrinogen level, clinicians and laboratory physicians should be alert to the possibility of congenital dysfibrinogenemia.
先天性纤维蛋白原血症的特征是 Clauss 测定法检测到的纤维蛋白原水平极低或无法检测到，伴有出血和/或血栓形成。对于不熟悉这种疾病的临床医生来说，这可能会导致诊断问题。我们报告了一例先天性纤维蛋白原血症病例，表现为出血、反复血栓形成、Clauss 测定法纤维蛋白原水平降低，但 PT 衍生试验纤维蛋白原水平正常。总之，对于伴有纤维蛋白原水平降低的血栓形成患者，临床医生和实验室医生应警惕先天性纤维蛋白原血症的可能性。
