1,458 results match your criteria Factor XI Deficiency


Management of factor XI deficiency in oncological liver and colorectal surgery by therapeutic plasma exchange: A case report.

Transfus Apher Sci 2021 May 31:103176. Epub 2021 May 31.

Transfusion Medicine Deparment, Hospital Italiano de Buenos Aires, Argentina.

Introduction: Factor XI (FXI) deficiency is a rare congenital hemostatic disorder associated with increased bleeding tendency in trauma, surgery or when other hemostatic defects are present. Perioperative hemostatic management of a patient with a severe FXI deficiency undergoing major oncological liver and colorectal surgery with therapeutic plasma exchange (TPE) with fresh frozen plasma (FFP) is reported.

Case Description: A 54-year-old male with severe FXI deficiency was scheduled for resection of synchronous rectal cancer and multiple liver metastases. Read More

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Identification of a modified coagulation factor X with enhanced activation properties as potential hemostatic agent.

Blood Cells Mol Dis 2021 07 23;89:102570. Epub 2021 Apr 23.

Research and Development, CSL Behring Innovation GmbH, Marburg, Germany.

Hemophilia A and hemophilia B are X-linked inherited bleeding disorders caused by a deficiency of coagulation factor VIII and IX, respectively. Standard of care is prophylactic factor replacement therapy; however, the development of neutralizing antibodies against these factors represents serious complications underlining the need for alternative treatment approaches. Human coagulation factor X has a central role within the blood coagulation system making it an attractive target for the development of alternative treatment strategies for patients with hemophilia. Read More

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Conversion Total Hip Arthroplasty Following Failed Hip Fracture Fixation in a Patient with Factor XI Deficiency: A Case Report.

J Orthop Case Rep 2020 May-Jun;10(3):80-84

Department of Orthopedic Surgery, Albany Medical Center, Albany, New York, USA.

Introduction: Factor XI (FXI) deficiency is a hematologic condition that is rarely encountered by the arthroplasty surgeon. Effective risk assessment and perioperative management are paramount in minimizing the risk of intra- and post-operative bleeding in this patient population. An interdisciplinary approach is crucial in minimizing complications and achieving successful outcomes. Read More

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A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System.

J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211012187

MetroWest Medical Center, Framingham, MA, USA.

Prekallikrein (PK) deficiency, also known as Fletcher factor deficiency, is a very rare disorder inherited as an autosomal recessive trait. It is usually identified incidentally in asymptomatic patients with a prolonged activated partial thromboplastin time (aPTT). In this article, we present the case of a 52-year-old woman, with no prior personal or family history of thrombotic or hemorrhagic disorders, who was noted to have substantial protracted aPTT through the routine coagulation assessment before a kidney biopsy. Read More

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[Congenital factor Ⅺ deficiency: a retrospective analysis of 80 cases].

Zhonghua Xue Ye Xue Za Zhi 2021 Mar;42(3):205-209

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.

To analyze the clinical manifestation, laboratory examination, treatment and prognosis of congenital factor Ⅺ (FⅪ) deficiency. The clinical data of 80 patients with congenital FⅪ deficiency in our hospital from September 2006 to October 2020 were analyzed retrospectively. Among the 80 patients, there were 33 males (41. Read More

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Factor XI as a Target for New Anticoagulants.

Hamostaseologie 2021 Apr 15;41(2):104-110. Epub 2021 Apr 15.

Thrombosis and Atherosclerosis Research Institute, McMaster University, Hamilton, Ontario, Canada.

Despite advances in anticoagulant therapy, thrombosis remains the leading cause of morbidity and mortality worldwide. Heparin and vitamin K antagonists (VKAs), the first anticoagulants to be used successfully for the prevention and treatment of thrombosis, are associated with a risk of bleeding. These agents target multiple coagulation factors. Read More

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[Analysis of a pedigree with inherited factor V deficiency caused by compound heterozygous mutation].

Zhonghua Xue Ye Xue Za Zhi 2021 Feb;42(2):135-139

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.

To explore the molecular pathogenesis of a family with hereditary factor Ⅴ (FⅤ) deficiency. All the exons, flanking sequences, 5' and 3' untranslated regions of the F5 of the proband, and the corresponding mutation sites of the family members were analyzed via direct DNA sequencing. The CAT measurement was used to detect the amount of thrombin produced. Read More

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February 2021

[Analysis of a pedigree affected with hereditary coagulation factor XI deficiency due to compound heterozygous variants of F11 gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Mar;38(3):242-246

Department of Laboratory Medicine, the People's Hospital of Quzhou, Quzhou, Zhejiang 324000, China.

Objective: To analyze the clinical phenotype and genetic basis for a Chinese pedigree affected with coagulation factor XI (FXI) deficiency.

Methods: Activated partial thromboplastin time (APTT) and other blood coagulation factors, and activities of FXI:C and other relevant coagulation factors for a large Chinese pedigree including 6 patients from 3 generations were determined on a Stago automatic coagulometer. The FXI:Ag was determined with an ELISA method. Read More

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Challenges of antithrombotic therapy in the management of cardiovascular disease in patients with inherited bleeding disorders: A single-centre experience.

Haemophilia 2021 May 22;27(3):425-433. Epub 2021 Mar 22.

Department of Cardiology, Royal Free Hospital, London, UK.

Introduction: Cardiovascular events in patients with inherited bleeding disorders are challenging to manage. The risk of bleeding secondary to antithrombotic treatment must be balanced against the risk of thrombosis secondary to haemostatic therapy.

Methods: Patients with inherited bleeding disorders with coronary artery bypass grafting (CABG), percutaneous coronary intervention (PCI) or atrial fibrillation (AF) from a single centre (2010-2018) are included. Read More

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Autoimmune Factor V Deficiency That Took 16 Years to Diagnose due to Pseudodeficiency of Multiple Coagulation Factors.

Case Rep Med 2021 12;2021:4657501. Epub 2021 Jan 12.

Department of Internal Medicine, Suwa Central Hospital, Chino, Nagano 391-8503, Japan.

A 70-year-old man presented to our hospital with intramuscular hemorrhage in the right thigh. He had exhibited a tendency to bleed for the last 16 years and had visited several medical institutions, but no diagnosis had been made. Since the risk of sudden bleeding was assumed to be high due to his age, we decided to examine him in our department. Read More

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January 2021

Acquired Factor XI Deficiency with Lupus Anticoagulant in a Pregnant Woman Diagnosed by the Eruptions and Pain in Fingers.

Case Rep Obstet Gynecol 2020 28;2020:8854676. Epub 2020 Dec 28.

Department of Obstetrics and Gynecology, Specialized Clinical Science, Tokai University School of Medicine, Japan.

We report a case of acquired factor XI deficiency with lupus anticoagulant (LA) in a 28-year-old primigravida who presented with finger pain and eruptions on her palms and fingers during the 3rd trimester of pregnancy. The patient complained of pain and reddening of the fingers at 30 weeks of gestation. She was referred to our tertiary center with a diagnosis of preeclampsia and suspected collagen disease at 35 weeks of gestation. Read More

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December 2020

Factor XI, much more than an innocent observer.

J Thromb Haemost 2020 12;18(12):3172-3173

Department of Hematology and Clinical Oncology, Hospital General Universitario Morales Meseguer, University of Murcia, Murcia, Spain.

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December 2020

[Analysis of the molecular pathogenesis and clinical phenotypes of 10 patients with inherited coagulation factor Ⅺ deficiency].

Zhonghua Xue Ye Xue Za Zhi 2020 12;41(12):1041-1043

Medical Laboratory Center, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.

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December 2020

A novel mutation (Leu60Pro) in a Chinese pedigree with hereditary factor XI deficiency.

Blood Coagul Fibrinolysis 2021 Jan 12. Epub 2021 Jan 12.

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou HwaMei Hospital Ningbo Institute of Life and Health Industry, University of Chinese Academy of Sciences, Ningbo, China.

To analyse F11 gene mutations in a Chinese pedigree with hereditary factor XI (FXI) deficiency and investigate the molecular mechanism. The plasma FXI activity and FXI antigen of the proband and the family members were detected by clotting assay and ELISA, respectively. The F11 gene was amplified by PCR and sequenced directly. Read More

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January 2021

Pharmacological targeting of coagulation factor XI mitigates the development of experimental atherosclerosis in low-density lipoprotein receptor-deficient mice.

J Thromb Haemost 2021 04 10;19(4):1001-1017. Epub 2021 Feb 10.

Department of Biomedical Engineering, School of Medicine, Oregon Health and Science University, Portland, OR, USA.

Background: Human coagulation factor (F) XI deficiency, a defect of the contact activation system, protects against venous thrombosis, stroke, and heart attack, whereas FXII, plasma prekallikrein, or kininogen deficiencies are asymptomatic. FXI deficiency, inhibition of FXI production, activated FXI (FXIa) inhibitors, and antibodies to FXI that interfere with FXI/FXII interactions reduce experimental thrombosis and inflammation. FXI inhibitors are antithrombotic in patients, and FXI and FXII deficiencies are atheroprotective in apolipoprotein E-deficient mice. Read More

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Essential role of a carboxyl-terminal α-helix motif in the secretion of coagulation factor XI.

J Thromb Haemost 2021 04 10;19(4):920-930. Epub 2021 Feb 10.

Division of Cellular and Genetic Sciences, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Background: Coagulation factor XI (FXI) is a plasma serine protease zymogen that contributes to hemostasis. However, the mechanism of its secretion remains unclear.

Objective: To determine the molecular mechanism of FXI secretion by characterizing a novel FXI mutant identified in a FXI-deficient Japanese patient. Read More

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A case of factor XI deficiency in a patient undergoing an oesophagogastrectomy.

Br J Hosp Med (Lond) 2020 Dec 16;81(12):1-2. Epub 2020 Dec 16.

Department of Anaesthetics, Royal Surrey County Hospital, Guildford, UK.

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December 2020

The evolution of factor XI and the kallikrein-kinin system.

Blood Adv 2020 12;4(24):6135-6147

Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN.

Factor XI (FXI) is the zymogen of a plasma protease (FXIa) that contributes to hemostasis by activating factor IX (FIX). In the original cascade model of coagulation, FXI is converted to FXIa by factor XIIa (FXIIa), a component, along with prekallikrein and high-molecular-weight kininogen (HK), of the plasma kallikrein-kinin system (KKS). More recent coagulation models emphasize thrombin as a FXI activator, bypassing the need for FXIIa and the KKS. Read More

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December 2020

Factor XI Deficiency in a Patient with Cervical Spondylotic Myelopathy.

Spine (Phila Pa 1976) 2021 Mar;46(5):E349-E352

Department of Anesthesiology, Naha City Hospital, Okinawa, Japan.

Study Design: Case report.

Objective: To summarize the clinical manifestations and treatment of Factor XI deficiency in a patient with cervical spondylotic myelopathy.

Summary Of Background Data: Factor XI deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a coagulation factor XI. Read More

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Bernard-Soulier syndrome (BSS) with uncontrollable menorrhagia.

Asian J Transfus Sci 2020 Jan-Jun;14(1):93-95. Epub 2020 Jul 24.

Department of Obstetrics and Gynaecology, Medical College, Kolkata, West Bengal, India.

Menorrhagia is a common problem in women of reproductive age group and 5% of women between 30 and 49 years of age group consult their general practitioner for this problem. Menorrhagia occurring in adolescent age group and perimenopausal age group is chiefly due to anovulatory cycles. In perimenopausal age group, local pathology like leiomyomas can also contribute to menorrhagia. Read More

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A Case Report on an Extremely Rare Disease: Factor XI Deficiency.

Cureus 2020 Oct 1;12(10):e10746. Epub 2020 Oct 1.

Hematology and Oncology, Guthrie Robert Packer Hospital, Sayre, USA.

Factor XI deficiency is a rare condition with an estimated prevalence of about one in one million and is more commonly seen in Ashkenazi Jews (8-9%) due to consanguinity. It occurs because of mutations in the factor XI gene (F11) on chromosome 4(4q35). Patients with this disorder may remain asymptomatic until they undergo any surgical procedure or delivery. Read More

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October 2020

A Novel Assay for Determining Bleeding Risk in Factor XI Deficiency.

Thromb Haemost 2021 Feb 29;121(2):121. Epub 2020 Oct 29.

Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.

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February 2021

Osocimab: A Novel Agent in Preventing Venous Thromboembolism.

J Cardiovasc Pharmacol 2020 12;76(6):645-649

Department of Pharmacy Services, Augusta University Medical Center, Augusta, GA.

The nature of orthopedic surgery, and specifically total knee arthroplasty, lends itself to the development of venous thromboembolism given endothelial injury from the surgical procedure, promotion of an acute hypercoagulable state, and the prolonged period of immobilization after surgery promoting stasis; all factors of Virchow's triad. Current guidelines recommend the direct acting oral anticoagulants, enoxaparin, fondaparinux, and warfarin as options for venous thromboembolism prevention. However, these agents may still be prone to unacceptable bleeding risk, given they mostly target the extrinsic pathway of the clotting cascade, and have other characteristics which can be problematic for use. Read More

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December 2020

Model-dependent contributions of FXII and FXI to venous thrombosis in mice.

J Thromb Haemost 2020 11 28;18(11):2899-2909. Epub 2020 Aug 28.

Division of Hematology and Oncology, Department of Medicine, UNC Blood Research Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Background: The intrinsic pathway factors (F) XII and FXI have been shown to contribute to thrombosis in animal models. We assessed the role of FXII and FXI in venous thrombosis in three distinct mouse models.

Methods: Venous thrombosis was assessed in mice genetically deficient for either FXII or FXI. Read More

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November 2020

How to Capture the Bleeding Phenotype in FXI-Deficient Patients.

Hamostaseologie 2020 Nov 1;40(4):491-499. Epub 2020 Oct 1.

Division of Hematology and Central Hematology Laboratory, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.

Factor XI (FXI) is a serine protease involved in the propagation phase of coagulation and in providing clot stability. Several mutations in the gene lead to FXI deficiency, a rare mild bleeding disorder. Current laboratory methods are unable to assess bleeding risk in FXI-deficient patients, because the degree of bleeding tendency does not correlate with plasma FXI activity as measured by routine coagulometric aPTT-based assays. Read More

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November 2020

Turning Up to Eleven: Factor XI Inhibitors as Novel Agents to Maximize Safety and Maintain Efficacy in Thromboembolic Disease.

Curr Probl Cardiol 2021 Mar 28;46(3):100696. Epub 2020 Aug 28.

Within the past decade nonvitamin K oral anticoagulants have emerged as the standard of care for the prevention and treatment of thromboembolic disorders, however safety of anticoagulants remain a concern for many patients and providers. There exists new interest in factor XI inhibition as novel therapeutic target based on observations of lower thrombotic rates and without significant bleed risk in individuals with inherited factor XI deficiency. Several classes of factor XI inhibitors including antisense oligonucleotides, monoclonal antibodies, and small molecule inhibitors have undergone preclinical studies and clinical trials in humans. Read More

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[Mechanisms of Yiqihuoxue herb Naoluoxintong promotes cerebral vascular regeneration in rats with cerebral ischemia syndrome of Qi deficiency accompanied by blood stasis].

Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2020 Aug;36(8):712-718

Ministry-of-Education Key Laboratory of Xin'an Medicine, Anhui University of Chinese Medicine, Hefei 230012, China.

Objective To investigate the effect of Yiqihuoxue herb Naoluoxintong on cerebral vascular regeneration in rats of middle cerebral artery occlusion-reperfusion(MCAO-R)experimental model with Qi deficiency and blood stasis syndrome, and explore the possible mechanisms. Methods A total of 60 SD rats were randomly divided into a control group, a model group and three Naoluoxintong-treated groups [(1 200, 800 and 400 mg/(kg.d)], with 12 rats each. Read More

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