475 results match your criteria Dysfibrinogenemia


How I treat dysfibrinogenemia.

Blood 2021 Apr 25. Epub 2021 Apr 25.

University Hospital of Geneva, Geneva, Switzerland.

Congenital dysfibrinogenemia (CD) is caused by structural changes in fibrinogen that modify its function. Diagnosis is based on discrepancy between decreased fibrinogen activity and normal fibrinogen antigen levels and is confirmed by genetic testing. CD results from monoallelic mutations in fibrinogen genes leading to clinically heterogenous disorders. Read More

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Bleeding Diathesis in Multiple Myeloma: A Rare Presentation of a Dreadful Emergency With Management Nightmare.

Cureus 2021 Mar 19;13(3):e13990. Epub 2021 Mar 19.

Hematology and Oncology, Saint Michael's Medical Center, Newark, USA.

Multiple myeloma is a neoplastic disorder of plasma cells. An abnormal coagulation profile, though commonly seen in multiple myeloma, can rarely manifest as life-threatening hemorrhagic complications. Bleeding tendencies in multiple myeloma can be explained by a variety of mechanisms such as dysfibrinogenemia, paraprotein-induced platelet dysfunction, shortened platelet survival, damage to the vascular endothelium, and acquired von-Willebrand syndrome. Read More

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Hiding in plain sight: Diagnosing congenital dysfibrinogenemia in a child presenting with acute myeloid leukemia.

Pediatr Blood Cancer 2021 Apr 6:e29050. Epub 2021 Apr 6.

Department of Pediatrics, Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada.

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Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel) 2021 Mar 5;11(3). Epub 2021 Mar 5.

Division of Clinical Laboratory Science and Specialist Clinical Hemostasis Laboratory, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecular genetic investigations by summarizing the diagnostic work on cases with certain bleeding disorders. Read More

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Effects of pathogen reduction technology and storage duration on the ability of cryoprecipitate to rescue induced coagulopathies in vitro.

Transfusion 2021 Mar 23. Epub 2021 Mar 23.

Department of Pediatrics, Division of Critical Care, Washington University School of Medicine, St. Louis, Missouri, USA.

Background: Fibrinogen concentrates and cryoprecipitate are currently used for fibrinogen supplementation in bleeding patients with dysfibrinogenemia. Both products provide an abundant source of fibrinogen but take greater than 10 min to prepare for administration. Fibrinogen concentrates lack coagulation factors (i. Read More

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Whole Blood Thromboelastometry by ROTEM and Thrombin Generation by Genesia According to the Genotype and Clinical Phenotype in Congenital Fibrinogen Disorders.

Int J Mol Sci 2021 Feb 25;22(5). Epub 2021 Feb 25.

Division of Angiology and Hemostasis, University Hospitals of Geneva, 1211 Geneva, Switzerland.

The outcome of congenital fibrinogen defects (CFD) is often unpredictable. Standard coagulation assays fail to predict the clinical phenotype. We aimed to assess the pheno- and genotypic associations of thrombin generation (TG) and ROTEM in CFD. Read More

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February 2021

Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region.

Hematology 2021 Dec;26(1):305-311

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, People's Republic of China.

Background: : Congenital dysfibrinogenemia (CD) is a coagulation disorder caused by mutations in the fibrinogen genes, which result in abnormal fibrinogen function. However, the precise pathogenesis underlying it remains unclear.

Methods: : In this study, we identified a novel heterozygous mutation in an asymptomatic patient with CD caused by γ Ala327Val mutation. Read More

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December 2021

Comparison of different activators of coagulation by turbidity analysis of hereditary dysfibrinogenemia and controls.

Blood Coagul Fibrinolysis 2021 03;32(2):108-114

Faculty of Medicine.

Turbidity analysis is widely used as a quantitative technique in hereditary dysfibrinogenemia. We aimed to compare several coagulation triggers in hereditary dysfibrinogenemia and control plasmas. We included 20 patients with hereditary dysfibrinogenemia, 19 with hotspot mutations Aα Arg35His (n = 9), Aα Arg35Cys (n = 2), γ Arg301His (n = 6), γ Arg301Cys (n = 2), and one with Aα Phe27Tyr, and a commercial pooled normal plasma. Read More

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Venous Thrombosis and Thrombocyte Activity in Zebrafish Models of Quantitative and Qualitative Fibrinogen Disorders.

Int J Mol Sci 2021 Jan 11;22(2). Epub 2021 Jan 11.

Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, 1211 Geneva, Switzerland.

Venous thrombosis occurs in patients with quantitative and qualitative fibrinogen disorders. Injury-induced thrombosis in zebrafish larvae has been used to model human coagulopathies. We aimed to determine whether zebrafish models of afibrinogenemia and dysfibrinogenemia have different thrombotic phenotypes. Read More

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January 2021

Hemostatic Balance in Pediatric Acute Liver Failure: Epidemiology of Bleeding and Thrombosis, Physiology, and Current Strategies.

Front Pediatr 2020 23;8:618119. Epub 2020 Dec 23.

Division of Pediatric Hematology-Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States.

Pediatric Acute Liver Failure (PALF) is a rapidly progressive clinical syndrome encountered in the pediatric ICU which may rapidly progress to multi-organ dysfunction, and on occasion to life threatening cerebral edema and hemorrhage. Pediatric Acute Liver Failure is defined as severe acute hepatic dysfunction accompanied by encephalopathy and liver-based coagulopathy defined as prolongation of International Normalized Ratio (INR) >1.5. Read More

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December 2020

Analysis of an Inherited Dysfibrinogenemia Pedigree Associated with a Heterozygous Mutation in the FGA Gene.

Hamostaseologie 2020 Dec 29;40(5):642-648. Epub 2020 Dec 29.

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

Objective:  This article aims to analyze the phenotype and genotype of an inherited dysfibrinogenemia pedigree associated with a heterozygous mutation in the gene, and to investigate the pathogenesis of this disease.

Clinical Presentation:  The proband of interest is a 29-year-old woman. She was in her 37 weeks of gestation. Read More

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December 2020

A family study of congenital dysfibrinogenemia caused by a novel mutation in the FGA gene: A case report.

Open Med (Wars) 2020 3;15(1):769-773. Epub 2020 Aug 3.

Department of Laboratory Medicine, Henan Provincial People s Hospital, Department of Laboratory Medicine of Central China Fuwai Hospital, Central China Fuwai Hospital of Zhengzhou University, No. 1 Fuwai Road, Zhengzhou, Henan, 450003, China.

Congenital dysfibrinogenemia (CD) is a rare hereditary fibrinogen disorder characterized by normal fibrinogen antigen levels associated with lower functional activities. The aim of this study is to analyze the phenotype and genotype of a family of CD. Routine coagulation screening tests were performed on the proband, her parents, and her grandparents. Read More

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Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy.

Front Med (Lausanne) 2020 27;7:591546. Epub 2020 Nov 27.

Department of Medicine, Hematology and Oncology, Case Western Reserve University, Cleveland, OH, United States.

A previously hemostatically asymptomatic patient with common variable hypogammaglobulinemia was given everolimus to prevent growth of her liver. Within several months, the patient developed a severe bleeding disorder. The bleeding was due to fibrin polymerization defect that upon sequencing was shown to be dysfibrinogenemia Krakow III. Read More

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November 2020

Fibrinogen concentrate for bleeding in patients with congenital fibrinogen deficiency: Observational study of efficacy and safety for prophylaxis and treatment.

Res Pract Thromb Haemost 2020 Nov 11;4(8):1313-1323. Epub 2020 Oct 11.

CSL Behring LLC King of Prussia PA USA.

Background: Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder characterized by reduced levels (afibrinogenemia, hypofibrinogenemia) or dysfunctional fibrinogen (dysfibrinogenemia), for which fibrinogen supplementation is the mainstay treatment.

Objectives: To assess the efficacy and safety of human fibrinogen concentrate (FCH) in patients with CFD.

Methods: This was a multicenter, noninterventional, retrospective cohort study with a 12-month prospective follow-up period in the United States and Canada. Read More

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November 2020

Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method.

Int J Lab Hematol 2021 Apr 8;43(2):281-289. Epub 2020 Oct 8.

Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.

Introduction: Congenital fibrinogen disorders (CFDs) are classified as afibrinogenemia or hypofibrinogenemia (Hypo), dysfibrinogenemia (Dys), or hypodysfibrinogenemia (Hypodys), according to functional and antigenic fibrinogen concentrations. However, in routine laboratory tests, plasma fibrinogen levels are mostly measured using the functional Clauss method and not as an antigenic level. Therefore, it is difficult to discriminate CFD from acquired hypofibrinogenemia (aHypo). Read More

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Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleeding.

BMJ Case Rep 2020 Sep 18;13(9). Epub 2020 Sep 18.

Department of Internal Medicine, Albany Medical College, Albany, New York, USA.

A 26-year-old woman was found to have congenital dysfibrinogenaemia after presenting to our hospital with premature rupture of the membranes and vaginal bleeding. Given the absence of clear guidelines for the management of pregnancy complicated by dysfibrinogenaemia, we followed expert consensus that exists among published works, with some modifications. This case was managed by a multidisciplinary team of obstetrics-gynaecology, haematology and paediatric haematology. Read More

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September 2020

Congenital dysfibrinogenemia as a rare cause of recurrent gastrointestinal bleeding.

Pol Przegl Chir 2020 Apr;92(5):1-5

Katedra Hematologii, Collegium Medicum Uniwersytetu Jagiellońskiego, Kraków, Polska.

<b>Introduction: </b>Gastrointestinal bleeding is a common disease that surgeons encounter in everyday clinical practice. It is most often easy to diagnose and treat. However, rare causes of bleeding can lead to delayed diagnosis and ineffective treatment. Read More

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Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population.

J Thromb Thrombolysis 2021 May 16;51(4):1127-1131. Epub 2020 Sep 16.

Department of Cardiothoracic Surgery, Nanchong Central Hospital, Nanchong, 637900, Sichuan, People's Republic of China.

Two probands with unknown reasons for low fibrinogen activity were considered to investigate the association between mutations in inherited fibrinogen disorders (IFDs) and clinical features in the Chinese population. A routine coagulation test was conducted on a Sysmex CS5100 coagulation analyzer, and Sanger sequencing was employed to analyze mutations. A PubMed database search through May 2020 was performed to identify relevant studies regarding the congenital fibrinogen disorder epidemic in China. Read More

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Identification and characterization of novel mutations in Chinese patients with congenital fibrinogen disorders.

Blood Cells Mol Dis 2021 Feb 23;86:102489. Epub 2020 Aug 23.

Department of Medical Laboratory, First Affiliated Hospital of Nanchang University, People's Republic of China.

Introduction: Congenital fibrinogen disorders are characterized by heterogeneous clinical manifestations with mutations in the fibrinogen gene cluster. We aimed to describe the molecular genetics and clinical manifestations of fibrinogen abnormalities and perform genotype-phenotype correlations.

Materials And Methods: Genetic analysis of fibrinogen genes was performed by direct sequencing. Read More

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February 2021

Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative.

Thromb Res 2020 12 20;196:152-158. Epub 2020 Aug 20.

Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan; Department of Biomedical Laboratory Sciences, School of Health Sciences, Shinshu University, Matsumoto, Japan.

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. We performed genetic and functional analyses of a 31-year-old woman with suspected hypodysfibrinogenemia. Read More

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December 2020

A rare heterozygous variant in FGB (Fibrinogen Merivale) causing hypofibrinogenemia in a Swedish family.

Blood Coagul Fibrinolysis 2020 Oct;31(7):481-484

Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden.

: 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. Read More

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October 2020

A novel heterozygous mutation (γIIe367Thr) causes congenital dysfibrinogenemia in a Chinese family.

Blood Coagul Fibrinolysis 2020 Dec;31(8):569-574

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

: The aim of this study was to elucidate the molecular defects in a Chinese family with dysfibrinogenemia. The fibrinogen activity was measured by the one-stage clotting method. The fibrinogen antigen was measured with immunoturbidimetry. Read More

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December 2020

Fibrinogen Clauss and prothrombin time derived method ratio can differentiate dysfibrinogenemia from hypofibrinogenemia and hyperfibrinogenemia.

Thromb Res 2020 10 12;194:197-199. Epub 2020 Jul 12.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address:

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October 2020

A Double Whammy of Mycotic Aneurysms and Acquired Dysfibrinogenemia in a Patient with Septicemia.

Balkan Med J 2021 Jan;38(1):55-56

Department of Radiology, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.

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January 2021

Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations.

Int J Lab Hematol 2020 Oct 8;42(5):619-627. Epub 2020 Jul 8.

Department of Hematology and Blood Banking, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

Introduction: Congenital fibrinogen disorders (CFDs) comprise the quantitative and qualitative fibrinogen molecule abnormalities that are caused by fibrinogen gene mutations. The objective of this cohort research was to study the molecular and clinical profiles of patients with CFDs.

Materials And Methods: Genomic DNA Sanger sequencing of 14 Iranian patients was performed to determine CFDs-causing mutations. Read More

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October 2020

Comparison of molecular structure and fibrin polymerization between two Bβ-chain N-terminal region fibrinogen variants, Bβp.G45C and Bβp.R74C.

Int J Hematol 2020 Sep 19;112(3):331-340. Epub 2020 Jun 19.

Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.

We identified two heterozygous dysfibrinogenemias, Bβp.Gly45Cys (Kyoto VII; K-VII) and Bβp.Arg74Cys (Iida II; I-II). Read More

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September 2020

Acquired dysfibrinogenemia: monoclonal λ-type IgA binding to fibrinogen caused lower functional plasma fibrinogen level and abnormal clot formation.

Int J Hematol 2020 Jul 6;112(1):96-104. Epub 2020 Apr 6.

Department of Biomedical Laboratory Sciences, School of Health Sciences, Shinshu University, Matsumoto, Japan.

We report a case of acquired dysfibrinogenemia with monoclonal gammopathy of undetermined significance presenting λ-type IgA M protein. The patient showed lower functional (0.4 g/dL) and normal immunological fibrinogen (2. Read More

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