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Factor XI is a zymogen with an important role in the coagulation cascade. It is activated by FXII, thrombin and or it can be autoactivated. It has a prothrombotic effect after being activated by thrombin, but also through its antifibrinolytic action, stabilizing the formed clot.

Factor XI deficiency, also known as hemophilia C, is an uncommon bleeding disorder caused by insufficient levels of coagulation factor XI, a critical protein in the intrinsic pathway of blood clotting. Unlike hemophilia A and B, which involve deficiencies in factors VIII and IX respectively, factor XI deficiency typically results in milder bleeding. Managing factor XI deficiency requires a comprehensive approach that considers the severity of bleeding episodes, patient responses, and potential risks. Treatment options include factor replacement therapy, desmopressin (DDAVP), and antifibrinolytic medications tailored to meet each patient's specific needs. Factor replacement therapies involve administering plasma-derived or recombinant factor XI concentrates to elevate deficient levels and effectively prevent or treat bleeding events. However, challenges arise due to the limited availability of factor XI concentrates. DDAVP, a synthetic hormone, stimulates the release of stored factor XI from endothelial cells, rapidly increasing clotting levels. While effective in some cases, not all patients respond favorably to DDAVP therapy. Antifibrinolytic medications, such as tranexamic acid, stabilize blood clots by inhibiting fibrinolysis, offering additional protection against mucosal bleeding and during surgical procedures. Individualized treatment plans, daily monitoring of factor XI levels, and close collaboration among patients, hematologists, and healthcare providers are essential for effectively managing factor XI deficiencies. This paper aims to enhance understanding of this rare condition and develop innovative treatment strategies to improve the quality of life for individuals affected by factor XI deficiencies. [ABSTRACT FROM AUTHOR]

Congenital factor XI deficiency (CFXI) is a rare blood disorder that occurs in one of every one million individuals. Given its rarity, there are very few reports of surgical procedures performed in the oral region CFXI patients. The present study reports the case of a 43-year-old man with CFXI who experienced multiple tooth extractions. It also conducted a review of the literature and treatment outline. We preoperatively administered fresh frozen plasma (FFP) before the tooth extraction and continued to transfuse FFP at the rate of 2 units per day from day 1 to 4 of admission. The extractions were divided into two parts, maxillary and mandibular and the teeth extracted on days 2 and 4 of admission. The patient was discharged on day 6 of admission because there was good progress and no postoperative bleeding. Therefore, it was possible to perform multiple tooth extractions without abnormal bleeding in the oral cavity; the chance of bleeding was reduced by administering FFP and increasing local hemostasis in CFXI patients. [ABSTRACT FROM AUTHOR]

* BACKGROUND: A 28-year-old recreationally active female sustained a lateral meniscus injury that was managed by undergoing a lateral meniscectomy and debridement. * CASE PRESENTATION: Postoperative recovery was complicated by a hemarthrosis (joint bleed) related to a rare bleeding disorder called Factor XI deficiency or hemophilia C. * OUTCOME: This case report outlined the timeline of events including presurgical planning, initial outpatient physical therapist visit, hemophilia treatment center hemarthrosis management, return to outpatient physical therapist, and progression to running. * DISCUSSION: Rehabilitation of younger, active patients looking to return to impact sports, such as running, is not well published in patients with a history of joint bleeds. An outline of the general progression utilized for this patient is discussed. [ABSTRACT FROM AUTHOR]

Coagulation alterations might represent a problem in obstetric anesthesia considering that they may contraindicate neuraxial techniques and worsen a case of uterine atony with more severe bleeding if they are not correctly recognized and treated. We report the case of a parturient diagnosed with severe factor XI deficiency during the delivery progress. In this case, non-steroidal anti-inflammatory drugs and neuraxial techniques were avoided and intravenous patient-controlled analgesia with boluses of remifentanil was used for pain management. Treatment with tranexamic acid and fresh frozen plasma was initiated and the absence of urgent factor XI availability was notified. Due to no progression of labor, cesarean section was required and a general anesthesia was performed. During the procedure, uterine atony occurred. Uterine massage and several uterotonic drugs were needed to control it. The patient remained stable and the delivery was accomplished without further incidents. The objective of this report is to present the pain, coagulation and bleeding management of a patient with hemophilia C in our obstetric department and to alert for the need of multidisciplinary work to successfully approach this type of patient.

Introduction: Factor XI deficiency or hemophilia C is a very rare coagulation factor deficiency, with a global incidence of 1 in 1 million. Although it is an under-recognized entity, it can cause significant bleeding, resulting in life-threatening complications. Materials and Methods: Coagulation parameters were analyzed using a Sysmex CS-2400 coagulation analyzer. Factor XI levels were detected using Factor XI deficient plasma from Siemens. Activated Partial Thromboplastin Time (APTT) testing was performed using Actin FSL from Siemens. Results: Here, we report the two cases of Factor XI deficiency, one genetic and the other a very rare acquired deficiency due to sepsis, detected during the workup of an isolated APTT prolongation. Conclusion: Factor XI deficiency is a rare bleeding disorder that presents as prolonged isolated APTT. Careful clinical evaluation and complete coagulation workup are necessary for the efficient management of patients, which can prevent life-threatening events.

Factor FXI is an essential participant of the blood coagulation cascade and is coded by the F11 gene, mutations in which lead to an extremely rare (1 : 1 000 000) autosomal disease—FXI deficiency, also known as hemophilia C. The most frequently, FXI deficiency is diagnosed in Ashkenazi Jews with three major mutations. The aim of this study was a primary description of the F11 gene mutational spectrum in the Russian population. During the study, we sequenced all functionally important regions of the F11 gene for 11 unrelated patients with hemophilia C. In total, ten different gene defects were revealed: five missense mutations, one nonsense mutation, three frameshift deletions, and one inframe deletion. All of them were uniformly distributed across the gene. Among the most frequent genetic defects in the world population, we found only type II mutation p.Glu135Ter common in Ashkenazi Jews in our sample. Two previously undescribed variants (c.1768del and p.His53Tyr) were evaluated as probably pathogenic. There was a typical picture of incomplete dominance by laboratory parameters—a significant decline of FXI activity level and an increase in APTT when both copies of the gene were damaged and slight deviations from the norm if only one of the copies was impaired. To sum up, we described F11 defects in Russian patients with FXI deficiency. Our findings indicate a high level of heterogeneity of the mutational spectrum leading to hemophilia C in Russia. [ABSTRACT FROM AUTHOR]

Factor VII and XI deficiencies are rare bleeding disorders typically associated with mild or provoked bleeding. This case report describes a patient with factor VII and XI deficiencies with an unprovoked episode of lower extremity hematoma causing compartment syndrome requiring multiple surgeries, extensive transfusion of blood products, and ultimately amputation. [ABSTRACT FROM AUTHOR]

Factor XI deficiency, a rare but significant coagulopathy, poses unique challenges in perioperative management, particularly in obstetric settings. This review provides an in-depth exploration of the pathophysiology, diagnosis, and anesthetic implications of factor XI deficiency, thereby emphasizing the useful role of anesthesiologists. The variable bleeding phenotype of the disorder necessitates a nuanced understanding and tailored management strategies to mitigate severe perioperative bleeding risks. Conventional coagulation tests, while useful, often fall short in predicting bleeding risks, underscoring the importance of advanced diagnostic tools, such as viscoelastic testing. Viscoelastic testing provides real-time data on clot stability, which allows for immediate intervention and more targeted therapeutic strategies compared to standard coagulation tests. A clinical case of a 25-year-old patient with factor XI deficiency undergoing emergency surgery for an ectopic pregnancy illustrates the application of viscoelastic testing in managing acute bleeding and optimizing patient outcomes and advocates for the development of standardized protocols, continuous monitoring techniques, and enhanced training programs to improve the perioperative care of patients with factor XI deficiency, providing anesthesiologists with the tools necessary to navigate the complexities of factor XI deficiency in the perioperative environment. Integrating these advanced diagnostic and therapeutic approaches could significantly improve patient safety and surgical outcomes in patients with complex coagulopathy., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Martinez-Lopez et al.)

Acquired coagulation factor deficiencies are caused by inhibitory autoantibodies which are usually directed against clotting factor VIII (FVIII), causing acquired hemophilia A (AHA). Clotting factor inhibitors usually cause abnormalities in screening coagulation tests (activated partial thromboplastin time [aPTT] and/or prothrombin time [PT]). Other coagulation factor inhibitors are much rarer, particularly inhibitors to factor XI (FXI). We present the case of an 82-year-old woman referred to a hematological center for isolated aPTT prolongation in pre-surgery screening tests. No bleeding symptoms were reported either at admission or in the patient's medical history. One stage coagulation factor assays revealed lower factor VIII, IX, XI, XII levels. The Nijmegen modification of the Bethesda assay showed the presence of an inhibitor to factor XI (22.1 BU/mL). No autoantibodies to coagulation factors VIII, IX and XII were found: inhibitor titers were all below 0.6 BU/mL. Acquired hemophilia C was diagnosed (the presence of autoantibodies to clotting factor XI). [ABSTRACT FROM AUTHOR]

Introduction: Factor XI deficiency or hemophilia C is a very rare coagulation factor deficiency, with a global incidence of 1 in 1 million. Although it is an under-recognized entity, it can cause significant bleeding, resulting in life-threatening complications. Materials and Methods: Coagulation parameters were analyzed using a Sysmex CS-2400 coagulation analyzer. Factor XI levels were detected using Factor XI deficient plasma from Siemens. Activated Partial Thromboplastin Time (APTT) testing was performed using Actin FSL from Siemens. Results: Here, we report the two cases of Factor XI deficiency, one genetic and the other a very rare acquired deficiency due to sepsis, detected during the workup of an isolated APTT prolongation. Conclusion: Factor XI deficiency is a rare bleeding disorder that presents as prolonged isolated APTT. Careful clinical evaluation and complete coagulation workup are necessary for the efficient management of patients, which can prevent life-threatening events. [ABSTRACT FROM AUTHOR]

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. It is claimed to be associated with prominent bleeding in case of trauma and surgery irrelevant to the FXI level. This is the first ever case of a patient with factor XI deficiency with cervical spondylotic myelopathy.Methods: A case was investigated retrospectively and the relevant literature was reviewed.Results: A 66-year-old man with a 2-months history of lack of finger dexterity and gait disturbance was referred to our department. He did not have a history of bleeding or coagulation disorder nor did his family. Magnetic resonance imaging (MRI) of the cervical spine revealed spinal canal stenosis at C3/4 to C5/6 and intramedullary hyperintensity at C3/4 on the :T2 weighted image (T2WI). Preoperative examination revealed no abnormal findings but a severe prolonged activated partial-thromboplastin time (APTT) of 139.8 seconds. Coagulation factor activity assay revealed severe deficiency of factor XI (<0.1%). In accordance with hematologist's recommendation, four units of fresh frozen plasma (FFP) were transfused on the day before surgery and APTT assayed early morning on the day of surgery was 70.5 seconds. An additional four units of FFP were transfused during the surgery and APTT was 60 seconds. The postoperative course was uneventful and the patient was discharged on the postoperative day 14.Conclusion: Factor XI deficiency patients may develop excessive bleeding after trauma or surgery. Preoperative examination with prolonged APTT should be pursued until a diagnosis of is made. Under diagnosis of Factor XI deficiency, meticulous attentions are required for perioperative bleeding management including postoperative hematoma in spinal surgery.Level of Evidence: 5. [ABSTRACT FROM AUTHOR]

Although two clusters have been identified in France, constitutional factor XI deficiency is a rare disorder. Acquired factor XI deficiency is extremely rare. The management of factor XI deficiency is not staightforward because of the unpredictable bleeding tendency that does not clearly relate to the factor XI level. Other haemostastis parameters have to be taken into account to evaluate the bleeding tendency. We report the cases of a congenital factor XI deficiency, an acquired factor XI deficiency and a von Willebrand disease associated to a factor XI deficiency. On the other hand, some interferences can lead to underestimation of factor XI and we report the case of an interference by lupus anticoagulant. The objective of this review is to better understand how to manage a reduced factor XI level.

Pretruncal nonaneurysmal subarachnoid hemorrhage (PNSAH) accounts for 15%–12% of all case of subarachnoid hemorrhage. Its precise etiology is not yet established. Multiple theories and risk factors have been investigated to address the possible cause of this type of hemorrhage including basilar tip dissecting aneurysms, high spinal arteriovenous fistula, venous stenosis/hypertension or venous bleeding. Hereditary coagulopathies and hemophilias have rarely been reported in the literature as a potential cause of PNSAH. Here, we reported a rare case of PNSAH with negative angiogram and magnetic resonance imaging who was also found to have hemophilia C (factor XI deficiency) confirmed by laboratory investigation. We also included a literature review of hereditary coagulopathies and their role as a possible cause of PNSAH. Detailed medical history and physical examination of patients with PNSAH may lead to further hematologic evaluation for this group of patients, as in this case, and may reveal more cases of mild coagulopathy that require treatment. [ABSTRACT FROM AUTHOR]

Factor XI is a zymogen with an important role in the coagulation cascade. It is activated by FXII, thrombin and or it can be autoactivated. It has a prothrombotic effect after being activated by thrombin, but also through its antifibrinolytic action, stabilizing the formed clot. Hereditary deficiency of FXI causes haemophilia C - a disease manifested by an usually provoked, small to moderate mucosal bleeding. People with severe FXI deficiency have a low risk of thrombotic events. Conversely, increased FXI values have been found to be associated with increased risk of venous thromboembolism and ischemic stroke. Lowering serum FXI levels has become a treatment target for the prevention of thrombotic events. New pharmacological agents - FXI inhibitors - have been investigated in phase II clinical trials, with promising results in terms of efficacy and safety in the prevention of thrombotic events. FXI inhibitors are emerging as new anticoagulant agents with broad indication prospects beyond direct oral anticoagulants and vitamin K antagonists., (© 2023 Ana-Maria Vlădăreanu et al., published by Sciendo.)

Background Factor XI (FXI) deficiency (hemophilia C [HEM-C]) is a bleeding disorder with unpredictable severity that correlates poorly with FXI coagulation activity (FXI:C). It poses a perioperative hemostatic management challenge. For US patients with severe disease, fresh frozen plasma (FFP) or, in current use, thawed plasma is the most readily available option but comes with risk of volume overload. We report our experience of using therapeutic plasma exchange (TPE) as an alternative perioperative management strategy. Methods A retrospective review of all HEM-C patients who underwent surgical procedures. Data were collected, including demographics, bleeding history, surgical site, perioperative hemostatic intervention, and outcome. Results Between July 1997 and September 2014, 28 HEM-C patients (12 men) were identified, 4 with severe disease (FXI:C <2% or excessive bleeding). Nineteen patients underwent 91 invasive procedures. For nearly 60% of the procedures, no periprocedural hemostatic intervention was provided; before 4 procedures (3 patients), 1 plasma volume TPE preoperatively with FFP was administered. Patient 1, a 28-year-old woman (FXI:C, 35%) with a history of excessive surgical bleeding, underwent 2 TPE procedures before laparoscopic pelvic biopsy and subsequent abdominal hysterectomy with salpingo-oophorectomy that increased her FXI:C to 48%. Patient 2, a 79-year-old man (FXI:C, <2%), had TPE before total hip arthroplasty, increasing his FXI:C to 24%. Patient 3, a 59-year-old man (FXI:C, <2%), had TPE before prostate laser enucleation, increasing his FXI:C to 46%. Patients 1 and 3 had mild reactions during TPE; no patient had evidence of volume overload. All patients had adequate intraoperative surgical hemostatic outcomes. Conclusion TPE is an effective alternative presurgical hemostatic intervention in HEM-C with potentially lower risk of circulatory volume overload. [ABSTRACT FROM AUTHOR]

A persistent post-extractional bleeding in an apparently healthy patient must warn dentists about a possible bleeding diathesis such as misdiagnosed von Willebrand disease (vWD), hemophilia A, and hemophilia C. Mild type of vWD and mild hemophilia A can be diagnosed in women with menorrhagia, in persons with excessive mucocutaneous bleeding such as bruising without recognized trauma, in persons with recurrent nose bleeds and prolonged oral cavity bleeding including gingivorragia after brushing or flossing teeth or dental cleaning or extractions, and in persons with persistent postextractional bleeding. Dentists have indeed a primordial role in the management of post-extractional bleeding complications related to these diseases and in the orientation of patient to a specialized medical center for further investigations and management. In this study, a case of mild vWD was diagnosed after persistent post-extractional bleeding of the right second maxillary molar, on a 43-year-old patient without medical or bleeding history. Extraction of 17 was performed and 24 h later persistent bleeding was noted. Ruling out local causes by clinical examination and periapical radiograph, a complete blood screening including complete blood count, platelets count, bleeding time, prothrombin time (PT), and cephalin kaolin clotting time (CKCT) was performed to evaluate the primary hemostasis and coagulation. Prolonged CKCT (46.30 s) and normal PT (14 s) illustrated a disorder function of intrinsic coagulation pathway including Factors VIII, IX, and XI. Factors VIII and IX had normal values. Further laboratory investigations of Ag von Willebrand factor and its ristocetin cofactor activity permitted the diagnosis of vWD. [ABSTRACT FROM AUTHOR]

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Factor XI (FXI) deficiency (hemophilia C or Rosenthal disease) was first described in the 1950s in a multigenerational family experiencing bleeding related to surgery and dental procedures. Managing patients with FXI deficiency presents several challenges, including a lack of correlation of bleeding symptoms with FXI activity levels, the large volume of fresh frozen plasma required to achieve hemostatic FXI levels, lack of availability of FXI concentrate in certain regions of the world, and the inherent thrombotic risk associated with replacement therapy. This article summarizes presentation, diagnosis, and management of patients with FXI deficiency in a variety of clinical settings., Competing Interests: Disclosure M.D. Lewandowska: Advisory board for Bio Products Laboratory. All Honoraria donated to the Indiana Hemophilia and Thrombosis Center. J.M. Connors: No relationships to disclose related to this article; others include personal fees for scientific Ad Boards and Consulting: Abbott, Anthos, Alnylam, Bristol-Myers Squibb, Portola, and Takeda. Research funding to the institution from CSL Behring., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

It has been suggested that persons with factor XI deficiency can have a normal activated partial thromboplastin time (aPTT). This notion is based on limited data, especially in children. Because of the central role the aPTT plays in diagnostic algorithms for bleeding disorders, it is important to know if a normal aPTT eliminates the need for factor XI activity testing. Our institutional database contains seven children with factor XI deficiency, of whom four have a normal aPTT. This supports the hypothesis that children with factor XI deficiency can have a normal aPTT. Clinicians may wish to consider this evidence when evaluating children with abnormal bleeding., (© 2017 Wiley Periodicals, Inc.)

Coagulation factor (F)XI has been described as a component of the early phase of the contact pathway of blood coagulation, acting downstream of factor XII. However, patients deficient in upstream members of the contact pathway, including FXII and prekallikrein, do not exhibit bleeding complications, while FXI-deficient patients sometimes experience mild bleeding, suggesting FXI plays a role in hemostasis independent of the contact pathway. Further complicating the picture, bleeding risk in FXI-deficient patients is difficult to predict because bleeding symptoms have not been found to correlate with FXI antigen levels or activity. However, recent studies have emerged to expand our understanding of FXI, demonstrating that activated FXI is able to activate coagulation factors FX, FV, and FVIII, and inhibit the anti-coagulant tissue factor pathway inhibitor (TFPI). Understanding these activities of FXI may help to better diagnose which FXI-deficient patients are at risk for bleeding. In contrast to its mild hemostatic activities, FXI is known to play a significant role in thrombosis, as it is a demonstrated independent risk factor for deep vein thrombosis, ischemic stroke, and myocardial infarction. Recent translational approaches have begun testing FXI as an antithrombotic, with one promising clinical study showing that an anti-sense oligonucleotide against FXI prevented venous thrombosis in elective knee surgery. A better understanding of the varied and complex role of FXI in both thrombosis and hemostasis will help to allow better prediction of bleeding risk in FXI-deficient patients and also informing the development of targeted agents to inhibit the thrombotic activities of FXI while preserving hemostasis. [ABSTRACT FROM AUTHOR]