CASE REPORTA rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish familyFager Ferrari, Marcusa; Leinoe, Evab; Rossing, Mariac; Norström, Evaa; Zetterberg, Evaa Author Information aClinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden bDepartment of Hematology cCenter for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Correspondence to Marcus Fager Ferrari, Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden E-mail: [email protected] Received 15 April, 2020 Revised 1 July, 2020 Accepted 4 August, 2020 Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website (www.bloodcoagulation.com). Blood Coagulation & Fibrinolysis: October 2020 - Volume 31 - Issue 7 - p 481-484 doi: 10.1097/MBC.0000000000000951 Buy SDC Metrics Abstract 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. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.