446 results match your criteria Dysfibrinogenemia


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

Int J Hematol 2020 Apr 6. 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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http://dx.doi.org/10.1007/s12185-020-02874-1DOI Listing

Congenital fibrinogen disorder caused by digenic mutations of the and genes.

Hematology 2020 Dec;25(1):145-148

Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

Congenital fibrinogen disorders (CFDs) are caused by monoallelic or biallelic mutations in , , and genes. Quantitative CFDs include afibrinogenemia and hypofibrinogenemia, while qualitative CFDs consist of dysfibrinogenemia and hypodysfibrinogenemia. Hypofibrinogenemia and dysfibrinogenemia are autosomal dominant disorders while afibrinogenemia is a recessive one. Read More

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http://dx.doi.org/10.1080/16078454.2020.1746109DOI Listing
December 2020

[A pedigree of congenital dysfibrinogenemia].

Zhonghua Nei Ke Za Zhi 2020 Apr;59(4):311-313

Department of Hematology, Affiliated Hospital of Chengde Medical University, Chengde 067000,China.

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http://dx.doi.org/10.3760/cma.j.cn112138-20190730-00525DOI Listing

Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia.

Int J Hematol 2020 Jun 12;111(6):795-802. Epub 2020 Mar 12.

National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, Martin, Slovakia.

Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with CD may experience bleeding and thrombosis, but many are asymptomatic. Read More

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http://dx.doi.org/10.1007/s12185-020-02842-9DOI Listing

[FGA gene variation causing congenital dysfibrinogenemia with recurrent arteriovenous thrombosis].

Zhonghua Er Ke Za Zhi 2020 Mar;58(3):236-238

Hematology Oncology Center, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.03.016DOI Listing

Heterozygous variant fibrinogen γA289V (Kanazawa III) was confirmed as hypodysfibrinogenemia by plasma and recombinant fibrinogens.

Int J Lab Hematol 2020 Apr 20;42(2):190-197. Epub 2020 Jan 20.

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

Introduction: Congenital fibrinogen disorders are classified as afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. However, difficulties are associated with discriminating between dysfibrinogenemia, hypofibrinogenemia, and hypodysfibrinogenemia using routine analyses. We previously reported a heterozygous variant fibrinogen (γA289V; Kanazawa III) as hypodysfibrinogenemia; however, the same variant had previously been described as hypofibrinogenemia. Read More

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http://dx.doi.org/10.1111/ijlh.13152DOI Listing

Missing regions within the molecular architecture of human fibrin clots structurally resolved by XL-MS and integrative structural modeling.

Proc Natl Acad Sci U S A 2020 01 10;117(4):1976-1987. Epub 2020 Jan 10.

Biomolecular Mass Spectrometry and Proteomics, Bijvoet Center for Biomolecular Research, Utrecht University, 3584 CH Utrecht, The Netherlands;

Upon activation, fibrinogen forms large fibrin biopolymers that coalesce into clots which assist in wound healing. Limited insights into their molecular architecture, due to the sheer size and the insoluble character of fibrin clots, have restricted our ability to develop novel treatments for clotting diseases. The, so far resolved, disparate structural details have provided insights into linear elongation; however, molecular details like the C-terminal domain of the α-chain, the heparin-binding domain on the β-chain, and other functional domains remain elusive. Read More

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http://dx.doi.org/10.1073/pnas.1911785117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995014PMC
January 2020

Congenital structural and functional fibrinogen disorders: a primer for internists.

Pol Arch Intern Med 2019 12 4;129(12):913-920. Epub 2019 Dec 4.

Division of Angiology and Haemostasis, Faculty of Medicine, University Hospitals of Geneva, Geneva, Switzerland

Congenital qualitative and quantitative fibrinogen disorders represent heterogeneous rare abnormalities caused by mutations in one of the 3 genes encoding individual fibrinogen polypeptide chains, located on chromosome 4q28. It is estimated that congenital fibrinogen disorder accounts for 8% of rare coagulation factor deficiencies. Most of congenital fibrinogen disorders are suspected in individuals with bleeding tendency or coincidentally discovered, for instance prior to surgery. Read More

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http://dx.doi.org/10.20452/pamw.15082DOI Listing
December 2019

Low persistence to rivaroxaban or warfarin among patients with new venous thromboembolism at a safety net academic medical center.

J Thromb Thrombolysis 2020 Feb;49(2):287-293

Emory University School of Medicine, Atlanta, GA, USA.

Recent guidelines recommend direct acting oral anticoagulants (DOAC) over vitamin-k antagonist (VKA) for acute venous thromboembolism (VTE). Non-adherence to anticoagulation has been associated with increased frequency of VTE or stroke. This study evaluated 90 day persistence among patients prescribed rivaroxaban or warfarin for the treatment of acute VTE at an academic safety net hospital. Read More

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http://dx.doi.org/10.1007/s11239-019-01959-xDOI Listing
February 2020
1 Read

Fibrinogen Łódź: a new cause of dysfibrinogenemia associated with recurrent thromboembolic arterial events.

Pol Arch Intern Med 2019 12 9;129(12):934-935. Epub 2019 Oct 9.

John Paul II Hospital, Kraków, Poland; Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland

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http://dx.doi.org/10.20452/pamw.15014DOI Listing
December 2019
2 Reads

Different sensitivity of von Clauss reagents for the diagnosis of dysfibrinogenemia.

Eur J Haematol 2020 Jan 16;104(1):70-71. Epub 2019 Oct 16.

Université de Versailles Saint-Quentin & Laboratoire de Biochimie, Hôpital Ambroise Paré, UMR1179, Boulogne Billancourt, France.

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http://dx.doi.org/10.1111/ejh.13333DOI Listing
January 2020
1 Read

Congenital fibrinogen disorders with repeated thrombosis.

J Thromb Thrombolysis 2020 Feb;49(2):312-315

Division of Blood Vessel Surgery, The First Affiliated Hospital of Zhengzhou University, No. 1 of Jianshe East Road, Zhengzhou, 450052, China.

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. Read More

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http://dx.doi.org/10.1007/s11239-019-01958-yDOI Listing
February 2020
1 Read

[Analysis of a pedigree affected with congenital dysfibrinogenemia due to a novel Gly31Glu mutation of FGA gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Sep;36(9):901-904

Center of Laboratory Medicine, the Second Affiliated Hospital of Wenzhou Medical University, Yuying Children's Hospital, Wenzhou, Zhejiang 325027,

Objective: To analyze the phenotype and genotype of a pedigree affected with congenital dysfibrinogenemia.

Methods: Liver and kidney functions of the proband and her relatives were determined. Coagulation tests including prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time(TT), fibrin(ogen) degradation products (FDPs), D-dimer(D-D) and the calibration experiment of protamine sulfate of against plasma TT were detected in the proband and her predigree members. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.09.012DOI Listing
September 2019
2 Reads

γD318Y fibrinogen shows no fibrin polymerization due to defective "A-a" and "B-b" interactions, whereas that of γK321E fibrinogen is nearly normal.

Thromb Res 2019 Oct 20;182:150-158. Epub 2019 Aug 20.

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

Background: The fibrinogen γ-module has several functional sites and plays a role in dysfibrinogenemia, which is characterized by impaired fibrin polymerization. Variants, including γD318Y and γΔN319D320, have been reported at the high affinity Ca-binding site, and analyses using recombinant fibrinogen revealed the importance of this site for fibrinogen functions and secretion. We examined the polymerization abilities of the recombinant fibrinogen variants, γD318Y and γK321E. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.08.017DOI Listing
October 2019
5 Reads

Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations.

Thromb Res 2019 Oct 24;182:133-140. Epub 2019 Aug 24.

John Paul II Hospital, Krakow, Poland; Institute of Cardiology, Jagiellonian University Medical College, Krakow, Poland.

Introduction: Congenital fibrinogen disorders are poorly explored in Slavic populations. The aim of this study was to characterize the genetic background and clinical manifestations of fibrinogen disorders in the Polish case series.

Materials And Methods: In 27 unrelated patients (mean [SD] age, 30. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.08.012DOI Listing
October 2019
3 Reads

Bleeding due to acquired dysfibrinogenemia as the initial presentation of multiple myeloma.

BMJ Case Rep 2019 Jul 17;12(7). Epub 2019 Jul 17.

Division of Hematology Oncology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Patients with multiple myeloma (MM) are at risk for acquired dysfibrinogenemia resulting in laboratory abnormalities and/or bleeding complications. We describe a 63-year-old man who presented with bleeding diathesis in the presence of a low fibrinogen activity level with a normal fibrinogen antigen level. Further studies revealed elevated levels of lambda free light chains, and he was diagnosed with MM. Read More

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http://dx.doi.org/10.1136/bcr-2019-229312DOI Listing
July 2019
9 Reads

Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders.

Eur J Haematol 2019 Oct 1;103(4):379-384. Epub 2019 Aug 1.

Hemophilia and Blood disorders Department, Hospital of Castelfranco Veneto, Castelfranco Veneto, Italy.

Objectives: Inherited dysfibrinogenemia is a rare disorder, for which clinical studies related to the risk of bleeding or thrombosis and the type of causative mutation are scanty.

Materials And Methods: We analyzed the laboratory, clinical, and genotypic features of 50 patients with inherited dysfibrinogenemia belonging to 19 unrelated families.

Results: In all the index cases, fibrinogen activity by Clauss method was below the normal range, while it was observed in 57. Read More

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http://dx.doi.org/10.1111/ejh.13296DOI Listing
October 2019
4 Reads

Haemorheological profile in congenital afibrinogenemia and in congenital dysfibrinogenemia: A clinical case report.

Clin Hemorheol Microcirc 2019 ;73(4):523-530

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, Università degli Studi di Palermo, Palermo, Italy.

Although the inherited quantitative and qualitative disorders of fibrinogen are rare, in the course of time patients may develop complications including episodes of arterial and venous thrombosis. It can be useful to complete the laboratory assessment of these clinical conditions with the evaluation of the haemorheological profile. The data obtained from this study showed that congenital afibrinogenemia was characterized by a primary plasma hypoviscosity, whereas congenital dysfibrinogenemia by a primary plasma hyperviscosity. Read More

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http://dx.doi.org/10.3233/CH-180542DOI Listing
March 2020
3 Reads

Interference of Monoclonal Gammopathy with Fibrinogen Assay Producing Spurious Dysfibrinogenemia.

TH Open 2019 Jan 19;3(1):e64-e66. Epub 2019 Mar 19.

Department of Clinical and Experimental Medicine, U.O. Hematology, University of Pisa, Pisa, Italy.

Abnormal coagulation properties indicative of a dysfibrinogenemia were found in the plasma of an asymptomatic 65-year-old male. An immunoglobulin k light chain was found to interfere with Fg functional assay and coagulation tests (activated partial thromboplastin time, prothrombin time, and thrombin time). Steroid therapy reduced the inhibitory effect (after dexamethasone treatment coagulation test and functional Fg value normalized). Read More

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http://dx.doi.org/10.1055/s-0039-1683969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524915PMC
January 2019
4 Reads

Fibrinogen Columbus II: A novel c.1075G>T mutation in the FGG gene causing hypodysfibrinogenemia and thrombosis in an adolescent male.

Pediatr Blood Cancer 2019 09 27;66(9):e27832. Epub 2019 May 27.

Division of Pediatric Hematology/Oncology/BMT, Nationwide Children's Hospital, Columbus, Ohio.

Hypodysfibrinogenemia, the least frequently reported congenital fibrinogen disorder is characterized by low circulating levels of a dysfunctional protein, and is associated with phenotypic features of both hypo- and dysfibrinogenemia. Herein, we report an adolescent male with unprovoked venous thromboembolism and hypodysfibrinogenemia. Patient had recurrent, progressive thrombosis despite therapeutic anticoagulation with both low molecular weight heparin and warfarin. Read More

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http://dx.doi.org/10.1002/pbc.27832DOI Listing
September 2019
8 Reads
2.562 Impact Factor

Fibrinogen αC domain: Its importance in physiopathology.

Res Pract Thromb Haemost 2019 Apr 15;3(2):173-183. Epub 2019 Feb 15.

Laboratoire de recherche en Onco-Hématologie Hôtel Dieu de Paris Paris France.

Abstract: Fibrinogen, involved in coagulation, is a soluble protein composed of two sets of disulfide-bridged Aα, Bβ, and γ-chains. In this review, we present the clinical implications of the αC domain of the molecule in Alzheimer's disease, hereditary renal amyloidosis and a number of thrombotic and hemorrhagic disorders. In Alzheimer's disease, amyloid beta peptide (Aβ) is increased and binds to the αC domain of normal fibrinogen, triggering increased fibrin(ogen) deposition in patients' brain parenchyma. Read More

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http://dx.doi.org/10.1002/rth2.12183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462745PMC
April 2019
14 Reads

Binding of Coagulation Factor XIII Zymogen to Activated Platelet Subpopulations: Roles of Integrin αIIbβ3 and Fibrinogen.

Thromb Haemost 2019 Jun 1;119(6):906-915. Epub 2019 Apr 1.

Center for Theoretical Problems of Physicochemical Pharmacology, Moscow, Russia.

Factor XIIIa (fXIIIa) is a transglutaminase that plays a crucial role in fibrin clot stabilization and regulation of fibrinolysis. It is known to bind to procoagulant platelets. In contrast, the zymogen fXIII interaction with platelets is not well characterized. Read More

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http://dx.doi.org/10.1055/s-0039-1683912DOI Listing
June 2019
10 Reads

c.259A>C in the fibrinogen gene of alpha chain () is a fibrinogen with thrombotic phenotype.

Appl Clin Genet 2019 28;12:27-33. Epub 2019 Feb 28.

Cancer Research Center, Wohl Institute of Translational Medicine, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Introduction: Dysfibrinogenemia is a rare inherited disease that results from mutation in one of the three fibrinogen genes. Diagnosis can be misleading since it may present as a bleeding tendency or thrombosis and a specific coagulation test for diagnosis is not routinely available.

Aim: To search for a new candidate gene of thrombophilia in a family with three generations of arterial and venous thrombosis. Read More

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http://dx.doi.org/10.2147/TACG.S190599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400116PMC
February 2019
4 Reads

Whole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogen.

Thromb Res 2019 May 5;177:79-82. Epub 2019 Mar 5.

Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing 100026, China. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2019.03.002DOI Listing
May 2019
6 Reads

Recurrent superficial venous thrombophlebitis because of mutations in the protein C and fibrinogen genes in a young Argentinian female.

Blood Coagul Fibrinolysis 2019 Mar;30(2):80-84

Laboratorio de Hematología, Sanatorio Allende.

: Hypodysfibrinogenemia and protein C deficiency are coagulopathies and in this report, we describe a young patient with both defects confirmed by molecular genetic tests. The patient was a 24-year-old woman referred for recurrent thrombophlebitis and finally deep venous thrombosis. Routine coagulation studies revealed mild decrease of protein C (0. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000790DOI Listing
March 2019
35 Reads

Clot waveform analysis in Clauss fibrinogen assay contributes to classification of fibrinogen disorders.

Thromb Res 2019 02 18;174:98-103. Epub 2018 Dec 18.

Department of Transfusion Medicine, Nagoya University Hospital, Japan; Department of Laboratory Medicine, Nagoya University Hospital, Japan.

Background: Clauss fibrinogen assay (CFA) is widely used as a screening test to detect fibrinogen disorders. However, CFA alone cannot distinguish quantitative and qualitative defects because it depends on functional fibrinogen activity (Ac), and fibrinogen antigen (Ag) determination is required to classify fibrinogen disorders.

Objectives: To establish a novel approach to classify fibrinogen disorders, we investigated the potential of clot waveform analysis (CWA) of CFA and searched for a surrogate marker for fibrinogen Ag. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.12.018DOI Listing
February 2019
7 Reads

[Mutation analysis of a FGG gene causing hereditary abnormal fibrinogen].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):812-814

Department of Clinical Laboratory, Dongyang People's Hospital, Dongyang, Zhejiang 322100, China.

Objective: To study the clinical phenotype and gene mutation analysis of a hereditary abnormal fibrinogenemia family and explore its molecular pathogenesis.

Methods: The STA-R automatic hemagglutination analyzer to detect the proband and its family members (3 generations of 5 people) of prothrombin time(PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen activity (Fg: C), D-dimer (D-D), fibrinogen and fibrin degradation products (FDPs), plasminogen activity (PLG: A); The plasma levels of Fg: C and fibrinogen (Fg: Ag) were measured by Clauss method and immunoturbidimetry respectively. All exons and flanking sequences of FGA, FGB and FGG genes of fibrinogen were amplified by PCR, and the PCR products were purified and sequenced for gene analysis. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.06.008DOI Listing
December 2018
36 Reads

Modified approach to fibrinogen replacement in the setting of dysfibrinogenaemia.

J Clin Pathol 2019 Feb 21;72(2):177-180. Epub 2018 Nov 21.

Department of Laboratory Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.

Most fibrinogen replacement strategies focus on quantitative deficiencies. A thrombin time (TT) mixing study helped to assess qualitative defects caused by dysfibrinogens. Plasma samples were collected from non-anticoagulated subjects (n=6) meeting laboratory criteria for suspected dysfibrinogenaemia (TT > 22 s; fibrinogen activity <180) and from a control group. Read More

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http://dx.doi.org/10.1136/jclinpath-2018-205438DOI Listing
February 2019
16 Reads

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.

Res Pract Thromb Haemost 2018 Oct 2;2(4):800-811. Epub 2018 Jul 2.

Department of Pediatrics University of Colorado School of Medicine Aurora CO USA.

Introduction: Fibrinogen is a complex molecule comprised of two sets of Aα, Bβ, and γ chains. Fibrinogen deficiencies can lead to the development of bleeding or thromboembolic events. The objective of this study was to perform DNA sequence analysis of patients with clinical fibrinogen abnormalities, and to perform genotype-phenotype correlations. Read More

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http://doi.wiley.com/10.1002/rth2.12127
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http://dx.doi.org/10.1002/rth2.12127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178649PMC
October 2018
12 Reads

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Thromb Haemost 2018 Nov 17;118(11):1867-1874. Epub 2018 Oct 17.

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

Background:  Numerous mutations in , or lead to congenital fibrinogen disorders (CFDs), but their epidemiology is not well characterized. The aim of this study was to evaluate the molecular epidemiology of CFD and to develop a genotyping strategy.

Methods:  Genetic data from 266 unrelated CFD patients genotyped at our laboratory and from a CFD open access database ( = 1,142) were evaluated. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1673685
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http://dx.doi.org/10.1055/s-0038-1673685DOI Listing
November 2018
26 Reads

Fibrin monomers derived from thrombogenic dysfibrinogenemia, Naples-type variant (BβAla68Thr), showed almost entirely normal polymerization.

Thromb Res 2018 12 4;172:1-3. Epub 2018 Oct 4.

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

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http://dx.doi.org/10.1016/j.thromres.2018.10.004DOI Listing
December 2018
15 Reads

Rare thrombophilic conditions.

Ann Transl Med 2018 Sep;6(17):342

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

Thrombophilia, either acquired or inherited, can be defined as a predisposition to developing thromboembolic complications. Since the discovery of antithrombin deficiency in the 1965, many other conditions have been described so far, which have then allowed to currently detect an inherited or acquired predisposition in approximately 60-70% of patients with thromboembolic disorders. These prothrombotic risk factors mainly include qualitative or quantitative defects of endogenous coagulation factor inhibitors, increased concentration or function of clotting proteins, defects in the fibrinolytic system, impaired platelet function, and hyperhomocysteinemia. Read More

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http://dx.doi.org/10.21037/atm.2018.08.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174195PMC
September 2018
37 Reads

Successful Pregnancy under Fibrinogen Substitution with Heparin and Aspirin in a Woman with Dysfibrinogenemia Revealed by Placental Abruption.

Thromb Haemost 2018 Nov 8;118(11):2006-2008. Epub 2018 Oct 8.

Department of Haematology, Nîmes University Hospital, University of Montpellier, Nîmes, France.

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http://dx.doi.org/10.1055/s-0038-1673615DOI Listing
November 2018
27 Reads

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation: A case report.

Medicine (Baltimore) 2018 Oct;97(40):e12697

Department of Clinical Laboratory, Central Hospital of Taian.

Rationale: Congenital dysfibrinogenemia (CD) is characterized by altered functional properties of the fibrinogen; people who suffer from CD often have a low activity of fibrinogen and the mutation in the genomic DNA.

Patient Concerns: A 6-year-old child was examined with a low activity of fibrinogen measured by Von Clauss method and PT-derived method which indicated a normal level of fibrinogen; this abnormality was also detected in her mother. The genomic DNA of all the family members was extracted, and all exons of 3 fibrinogen genes which encode fibrinogen alpha chain (FGA), fibrinogen beta chain (FGB), and fibrinogen gamma chain (FGG) were amplified by polymerase chain reaction (PCR), in addition, sanger sequencing, homologous sequence alignment and bioinformatics software were performed for the further analysis. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810050-0008
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http://dx.doi.org/10.1097/MD.0000000000012697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200480PMC
October 2018
18 Reads

Diagnosis and management of dysfibrinogenemia.

Authors:
Susan E Shapiro

Clin Adv Hematol Oncol 2018 Sep;16(9):602-605

Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Foundation Trust, NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom.

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September 2018
8 Reads

Correction: .

Authors:

BMJ Case Rep 2018 08 29;2018. Epub 2018 Aug 29.

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http://dx.doi.org/10.1136/bcr-2017-221375corr1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119366PMC
August 2018
9 Reads

Abnormal fibrinogen with an Aα 16Arg → Cys substitution is associated with multiple cerebral infarctions.

J Thromb Thrombolysis 2018 Oct;46(3):409-419

Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, Guangxi, China.

We found a heterozygous dysfibrinogenemia caused by a substitution of AαArg16Cys. The proband suffered multiple cerebral infarctions. Routine coagulation tests revealed a prolonged thrombin time. Read More

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http://dx.doi.org/10.1007/s11239-018-1689-zDOI Listing
October 2018
21 Reads

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.

Int J Mol Sci 2018 May 29;19(6). Epub 2018 May 29.

Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.

Congenital fibrinogen disorders can be quantitative (afibrinogenemia, hypofibrinogenemia) or functional (dysfibrinognemia). To date, several genetic variants have been identified in individuals with fibrinogen disorders. The complexity of the fibrinogen molecules, formed by three non-identical chains and with a trinodal organization, renders the identification of molecular causes and of clinical and biochemical phenotypes very challenging. Read More

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http://dx.doi.org/10.3390/ijms19061597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032319PMC
May 2018
50 Reads

Congenital dysfibrinogenaemia assessed by whole blood thromboelastography.

Int J Lab Hematol 2018 Aug 30;40(4):459-465. Epub 2018 Apr 30.

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

Introduction: Congenital dysfibrinogenaemia (CD) is a rare hereditary blood disorder, and thromboelastography (TEG) can comprehensively assess the clotting function of patients. However, only few studies have focussed on the application of TEG in CD. We aim to investigate the clinical value of TEG in congenital CD. Read More

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http://dx.doi.org/10.1111/ijlh.12827DOI Listing
August 2018
15 Reads

Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia.

Blood Coagul Fibrinolysis 2018 Jun;29(4):404-409

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

: Congential fibrinogen deficiency is a rare bleeding disorder caused by various mutations in three fibrinogen genes. It can be subdivided into four categories: afibrinogenemia, hypofibrinogenemia, hypodysfibrinogenemia and dysfbrinogenemia. This study was to elucidate the molecular defects in nine unrelated Chinese patients with hypofibrinogenemia or dysfibrinogenemia. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000699DOI Listing
June 2018
18 Reads

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Int J Mol Sci 2017 Dec 14;18(12). Epub 2017 Dec 14.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy.

Fibrinogen is a highly pleiotropic protein that is involved in the final step of the coagulation cascade, wound healing, inflammation, and angiogenesis. Heterozygous mutations in Aα, Bβ, or γ fibrinogen-chain genes (, , ) have been described as being responsible for fibrinogen deficiencies (hypofibrinogenemia, hypo-dysfibrinogenemia, dysfibrinogenemia) and for more rare conditions, such as fibrinogen storage disease and hereditary renal amyloidosis. Instead, biallelic mutations have been associated with afibrinogenemia/severe hypofibrinogenemia, i. Read More

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http://dx.doi.org/10.3390/ijms18122711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751312PMC
December 2017
23 Reads

Acute renal artery infarction secondary to dysfibrinogenemia.

BMJ Case Rep 2017 11 8;2017. Epub 2017 Nov 8.

Hematology-Oncology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.

Renal infarction is a rare occurrence accounting for 0.007% of patients seen in the emergency department for renal insufficiency or hypertension. Dysfibrinogenemia is also rare, and the combination of renal artery infarct in the setting of congenital dysfibrinogenemia has not been described in the literature. Read More

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http://dx.doi.org/10.1136/bcr-2017-221375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695362PMC
November 2017
44 Reads

Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis.

Thromb Res 2018 03 28;163:185-189. Epub 2017 Oct 28.

Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Department of Haematology, Laarbeeklaan 101, 1090 Brussels, Belgium.

Introduction: The propositus - a two-week-old boy - was transferred to our university hospital for investigation of increased head circumference and full fontanel. On ultrasound, thrombosis of the right internal cerebral vein and intraventricular haemorrhage was diagnosed, confirmed by MRI. Family history revealed a bleeding history in the mother. Read More

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http://dx.doi.org/10.1016/j.thromres.2017.10.020DOI Listing
March 2018
15 Reads

[Genetic Analysis of A Case of Congenital Dysfibrinogenemia Caused by Arg16His Mutation in Exon 2 of FGA].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2017 Oct;25(5):1514-1517

Department of Laboratoria Examination, The First Affiliated Hospitul of Nanchang University, Nanchang 330006, Jiangxi Province, China.

Objective: To analyze the phenotype and genotype of a family with congenital dysfibrinogenemia.

Methods: Assays of coagulation, including activated partial thromboplastin time(APTT), pro-thrombin time(PT)and thrombin time(TT) were carried out with Sysmex CA-7000 in the proband and his family members. The quality and quantity of fibrinogen in plasma were determined by Clauss and electrophoresis, respectively. Read More

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http://dx.doi.org/10.7534/j.issn.1009-2137.2017.05.041DOI Listing
October 2017
16 Reads

A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment.

Pak J Med Sci 2017 Jul-Aug;33(4):968-972

Xinyou Zhang, M.D. Department of Hematology, The Second Medical College (Shenzhen People's Hospital), Jinan University, Shenzhen, Guangdong Province, P.R. China.

Objectives: Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and clinical treatment of a Chinese family with dysfibrinogenemia. Read More

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http://dx.doi.org/10.12669/pjms.334.12828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648974PMC
October 2017
16 Reads

Management of dysfibrinogenemia in pregnancy: A case report.

J Clin Lab Anal 2018 Mar 26;32(3). Epub 2017 Sep 26.

Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Background: Dysfibrinogenemia is a rare coagulation disorder caused by mutations in the fibrinogen gene that results in abnormal fibrinogen function. Dysfibrinogenemia has a wide spectrum of clinical manifestations including asymptomatic(55%), hemorrhage (25%), and thrombosis (20%).

Methods: We reported a 30-year-old woman with 35 weeks gestation. Read More

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http://dx.doi.org/10.1002/jcla.22319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6816852PMC
March 2018
25 Reads

Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia.

J Clin Lab Anal 2018 May 18;32(4):e22322. Epub 2017 Sep 18.

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

Background: In this study, the significance of fibrinogen concentration assessed by a combination of Clauss and prothrombin time (PT)-derived methods for screening for congenital dysfibrinogenemia were investigated, and the screening efficiency of fibrinogen PT-derived/Clauss ratio on congenital dysfibrinogenemia was analyzed.

Methods: We compared fibrinogen concentrations determined by the Clauss, PT-derived, and enzyme-linked immunosorbent assay (ELISA) methods in 73 patients with congenital dysfibrinogenemia and 81 normal controls. Receiver operating characteristic (ROC) curves were utilized to evaluate the efficacy of fibrinogen PT-derived/Clauss ratio in screening for congenital dysfibrinogenemia. Read More

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http://dx.doi.org/10.1002/jcla.22322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6816876PMC
May 2018
67 Reads

Treating a Patient of Dysfibrinogenemia with Acute Thromboembolism by Rivaroxaban and Cilostazol.

Indian J Hematol Blood Transfus 2017 Sep 21;33(3):431-433. Epub 2016 Nov 21.

Department of Cardiovascular Surgery, Baskent University Istanbul Hospital, Oymaci Sk, No:7, Altunizade, 34662 Istanbul, Turkey.

Congenital dysfibrinogenemia is a rare autosomal recessive bleeding disorder, which is characterized by the absence of functional fibrinogen. Patients may have bleeding and paradoxical arterial and venous thrombotic problems from early childhood. The optimal antithrombotic therapy in these patients hasn't been determined yet. Read More

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http://dx.doi.org/10.1007/s12288-016-0751-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544642PMC
September 2017
54 Reads

Potential misdiagnosis of dysfibrinogenaemia: Data from multicentre studies amongst UK NEQAS and PRO-RBDD project laboratories.

Int J Lab Hematol 2017 Dec 2;39(6):653-662. Epub 2017 Aug 2.

Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, UK.

Introduction: Mutations in fibrinogen (Fgn) genes, causing dysfibrinogenaemia, can result in either a bleeding or thrombophilic diathesis. Dysfibrinogenaemia is infrequently encountered in hospital laboratories, and the utility of different assays in the diagnosis of dysfibrinogenaemia has not previously been explored in a multicentre study. We describe here an exercise in which PRO-RBDD project (prospective data collection on patients with fibrinogen and Factor XIII deficiencies) centres, and UK NEQAS centres, performed investigations for dysfibrinogenaemia. Read More

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http://dx.doi.org/10.1111/ijlh.12721DOI Listing
December 2017
22 Reads

Fibrinogen deficiency in a dog - a case report.

BMC Vet Res 2017 Jun 19;13(1):183. Epub 2017 Jun 19.

Department of Clinical Sciences, ENVT, University of Toulouse, 31076, Toulouse, France.

Background: Among coagulation disorders, primary fibrinogen deficiency is very rare in dogs. It is divided into hypofibrinogenemia, afibrinogenemia and dysfibrinogenemia. Afibrinogenemia has been described in three dogs. Read More

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http://dx.doi.org/10.1186/s12917-017-1110-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477273PMC
June 2017
26 Reads