Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative.
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DOI: 10.1016/j.thromres.2020.08.031
Abstract: INTRODUCTION Congenital fibrinogen disorders result from genetic mutations in FGA, FGB, or FGG resulting in quantitative fibrinogen deficiencies (afibrinogenemia or hypofibrinogenemia) or qualitative fibrinogen deficiencies (dysfibrinogenemia). Hypodysfibrinogenemia sharing features with hypo- and dysfibrinogenemia is rare.… read more here.
Keywords: congenital fibrinogen; fibrinogen; plasma fibrinogen; n170k fibrinogen ... See more keywords
Diagnostic utility of bleeding assessment tools in congenital fibrinogen deficiencies
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DOI: 10.1111/hae.14773
Abstract: The assessment of clinical history is crucial before referring a patient for further laboratory testing. Bleeding assessment tools (BAT) are developed to standardize clinical evaluation. A small number of patients with congenital fibrinogen deficiencies (CFDs)… read more here.
Keywords: bleeding assessment; congenital fibrinogen; assessment tools; fibrinogen deficiencies ... See more keywords
Efficacy and safety of fibrinogen concentrate for perioperative prophylaxis of bleeding in adult, adolescent, and pediatric patients with congenital fibrinogen deficiency: FORMA‐02 and FORMA‐04 clinical trials
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DOI: 10.1111/trf.17029
Abstract: Congenital fibrinogen deficiency (CFD) is a rare coagulation disorder placing patients at increased bleeding risk. Human fibrinogen concentrate (HFC) represents current standard of care for fibrinogen replacement in CFD, however, limited data are available on… read more here.
Keywords: adolescent pediatric; fibrinogen concentrate; congenital fibrinogen; adult adolescent ... See more keywords