Fager Ferrari Marcus, Leinoe Eva, Rossing Maria, Norström Eva, Zetterberg Eva
Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden.
Department of Hematology.
Blood Coagul Fibrinolysis. 2020 Oct;31(7):481-484. doi: 10.1097/MBC.0000000000000951.
: Fibrinogen is essential for normal hemostasis. Congenital fibrinogen disorders (afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia and hypodysfibrinogenemia), caused by pathogenic variants in the genes FGA, FGB and FGG, have the potential of causing bleeding diathesis and/or thrombotic events of variable severity. We describe a case of familial hypofibrinogenemia in a Swedish family. The proband is a 27-year-old woman, with a history of significant bleeding diathesis. She was diagnosed with moderate hypofibrinogenemia (0.8 g/l), and genetic screening identified a rare heterozygous missense variant in FGB (c.854G>A, p.Arg285His) (Fibrinogen Merivale) previously described in a New Zealand European family with symptomatic hypofibrinogenemia. The father, sister and brother of the proband also harbored the FGB variant, segregating with hypofibrinogenemia (0.9-1.2 g/l). The proband showed a more severe bleeding phenotype compared with her other hypofibrinogenemic family members; this was attributed to a concomitant platelet dysfunction, also present in her normofibrinogenemic mother.
纤维蛋白原对于正常止血至关重要。由FGA、FGB和FGG基因的致病变异引起的先天性纤维蛋白原疾病（无纤维蛋白原血症、低纤维蛋白原血症、异常纤维蛋白原血症和低异常纤维蛋白原血症）有可能导致不同严重程度的出血素质和/或血栓形成事件。我们描述了一个瑞典家庭中的家族性低纤维蛋白原血症病例。先证者是一名27岁女性，有明显出血素质病史。她被诊断为中度低纤维蛋白原血症（0.8g/l），基因筛查在FGB中发现了一种罕见的杂合错义变异（c.854G>A，p.Arg285His）（纤维蛋白原梅里瓦尔），此前在一个有症状性低纤维蛋白原血症的新西兰欧洲家庭中有所描述。先证者的父亲、姐姐和哥哥也携带FGB变异，并与低纤维蛋白原血症（0.9 - 1.2g/l）共分离。与其他低纤维蛋白原血症的家庭成员相比，先证者表现出更严重的出血表型；这归因于同时存在血小板功能障碍，其正常纤维蛋白原水平的母亲也有此情况。
