10,673 results match your criteria Factor V


Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813∗ and two variants specific to East Asians.

Blood Coagul Fibrinolysis 2022 Aug 10. Epub 2022 Aug 10.

Division of Hematology/Oncology, Department of Internal Medicine, Changhua Christian Hospital, Changhua, Taiwan.

Congenital coagulation factor V deficiency (FVD) is a rare, autosomal recessive bleeding disorder. We characterized the clinical presentations, laboratory features, and genetic alterations of Taiwanese patients with FVD. From 1983 to 2010, five women, one man, and one boy diagnosed with FVD were enrolled in this study. Read More

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Microsurgical Breast Reconstruction in Patients with Disorders of Hemostasis - Perioperative Risks and Management.

Plast Reconstr Surg 2022 Aug 10. Epub 2022 Aug 10.

Jian Farhadi, M.D., Prof. Plastic Surgery Group; Zurich, Switzerland. University of Basel; Basel, Switzerland.

Background: Surgical and technological advances have resulted in the widespread adoption of microsurgical breast reconstruction. Many comorbidities that potentially might impair vasculature and wound healing are no longer considered contraindications for these procedures. However, some uncertainty still prevails regarding the perioperative management of patients with disorders of hemostasis. Read More

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Acquired factor V inhibitor with erythema and eosinophilia in a patient with end-stage renal disease.

CEN Case Rep 2022 Aug 9. Epub 2022 Aug 9.

Cardiovascular Medicine, Nephrology and Neurology, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.

Autoimmune factor V deficiency (AiFVD) is a rare bleeding disorder caused by factor V inhibitors. In this report, we present the case of an 89-year-old man who developed bleeding tendency during surgery to create arteriovenous fistula for hemodialysis. The bleeding tendency developed with prolongation of activated partial thromboplastin and prothrombin time, following drug-induced eruption and eosinophilia. Read More

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A Combined Factor V and Factor VIII Deficiency: A Case Report.

Cureus 2022 Jul 5;14(7):e26568. Epub 2022 Jul 5.

Internal Medicine, King Saud Hospital, Unayzah, SAU.

Factor V and VIII deficiency (F5F8D) is a rare coagulopathy; it's an autosomal recessive condition. This case report is about of 15-year-old unmarried Saudi female, who presented with a complaint of pain in the lower abdomen. Complete blood count and coagulation profile revealed low hemoglobin and prolongation of activated partial thromboplastin time (aPTT), prothrombin time (PT), and international normalized ratio (INR). Read More

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[Clinical features of five cases of acquired factor V deficiency].

Rinsho Ketsueki 2022 ;63(7):733-739

Department of Hematology, Tokushima Prefectural Central Hospital.

Acquired factor V deficiency is a rare disease that presents with various bleeding symptoms because of the acquired production of factor V inhibitors and decrease in factor V activity. We have experienced five cases of acquired factor V deficiency diagnosed on the basis of abnormalities in coagulation tests in the last 10 years. All five patients were older men, of whom one had no bleeding symptoms, and three had a history of renal failure and malignant tumors. Read More

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Recurrent thrombosis rescued by fondaparinux in high-risk patients: A case series.

Res Pract Thromb Haemost 2022 Jul 29;6(5):e12773. Epub 2022 Jul 29.

Division of Hematology, Department of Medicine McGill University Montreal Quebec Canada.

Background: Recurrent thrombosis treatment options are limited when anticoagulation with dose escalation of low molecular weight heparin or unfractionated heparin fail. Fondaparinux is a pure, synthetic pentasaccharide that consists of heparin's essential five-sugar chain that binds antithrombin to inactivate factor Xa. There is scarce data regarding fondaparinux's use in recurrent thrombosis. Read More

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Dabigatran in Cerebral Sinus Vein Thrombosis and Thrombophilia.

Life (Basel) 2022 Jun 28;12(7). Epub 2022 Jun 28.

Department of Neurology 2, Kepler University Hospital, Med Campus III, 4020 Linz, Austria.

Background And Purpose: Thrombophilic gene alterations are a major risk factor for cerebral sinus vein thrombosis (CSVT). Up to 30% of all patients with cerebral sinus vein thrombosis (CSVT) are found to have thrombophilic defects such as prothrombin mutation (PTM) or factor V Leiden (FVL). Their repercussions on the plasma levels of dabigatran etexilate are unclear. Read More

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Large-scale screening for factor V Leiden (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in Greek population.

Health Sci Rep 2022 Jul 15;5(4):e457. Epub 2022 Jul 15.

Department of Biomedical Science University of West Attica Aigaleo Greece.

Background And Aims: To provide a fair estimate of the prevalence of factor V Leiden (FVL) (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in the Greek population.

Methods: We genotyped a representative sample of 974 apparently healthy Greek adults by the method of real-time PCR and we calculated the allele frequencies of factor V Leiden (FVL) (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations. In addition, we determined the frequency of co-occurrence of FVL (1691A) and prothrombin (20210A), FVL (1691A) and MTHFR (677T), prothrombin (20210A) and MTHFR (677T) mutations. Read More

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Bromodomain factor 5 is an essential regulator of transcription in Leishmania.

Nat Commun 2022 Jul 13;13(1):4071. Epub 2022 Jul 13.

York Biomedical Research Institute, Department of Biology, University of York, York, UK.

Leishmania are unicellular parasites that cause human and animal diseases. Like other kinetoplastids, they possess large transcriptional start regions (TSRs) which are defined by histone variants and histone lysine acetylation. Cellular interpretation of these chromatin marks is not well understood. Read More

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Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? - a cohort study and systematic review of the literature.

BMJ Open 2022 07 13;12(7):e059519. Epub 2022 Jul 13.

Women's Health, Medway Maritime Hospital, Gillingham, Kent, UK.

Objective: There are numerous studies reporting a disproportionally high prevalence of thrombophilia in women with a history of recurrent miscarriage (RM), which has led to overdiagnosis and treatment without an improvement in clinical outcomes. The objective of our study was to assess the prevalence of inherited and acquired thrombophilia in a large cohort of women with a history of early RM using internationally agreed diagnostic criteria and inclusion parameters and compare it to the meta-analysis results of existing literature.

Methods: DESIGN: Retrospective cohort study and systematic review of literature. Read More

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Arterial Thrombosis of Unknown Etiology in a 10-Year-Old Male.

Cureus 2022 May 27;14(5):e25400. Epub 2022 May 27.

Pediatric Hematology and Oncology, University of South Florida Morsani College of Medicine, Tampa, USA.

Arterial thrombotic events are exceedingly rare occurrences in pediatric populations. The incidence of childhood thrombosis is extremely low and the majority of cases are venous in origin. There are several well-known etiologies and genetic risk factors with an underlying predisposition to venous thrombosis, however, there have been few identified etiologies of arterial thrombotic events in pediatric patients. Read More

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"COVID toes": A true viral phenomenon or a diagnosis without a leg to stand on?

JAAD Int 2022 Dec 19;9:1-6. Epub 2022 Jun 19.

Department of Dermatology, New York Medical College, Valhalla, New York.

"COVID toes" is the colloquial name of chilblain-like lesions thought to be a sequela of COVID-19 infection. Over two years and approximately 300 publications later, this association remains controversial. Here, we summarize key clinical, serological, biological, histological, and immunological evidence that supports and rejects this relationship and discuss alternate theories underlying the pathogenesis of chilblain-like lesions. Read More

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December 2022

A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.

Front Med (Lausanne) 2022 9;9:870269. Epub 2022 Jun 9.

Division of Hemato-Oncology, Department of Internal Medicine, College of Medicine, Chang Gung Memorial Hospital, Keelung & Chang Gung University, Keelung, Taiwan.

Background: Factor V (FV) deficiency is a rare disease, with a low incidence rate in Asia. Therefore, the mutation in the Taiwanese population is poorly understood.

Methods: A Chinese family with FV deficiency was included, and the patient and his family members underwent mutation analysis. Read More

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Comprehensive Thrombophilia Evaluation in Cerebral Venous Thrombosis: A Single Center Cross Sectional Study.

Indian J Hematol Blood Transfus 2022 Jul 14;38(3):522-528. Epub 2021 Aug 14.

Internal Medicine, INHS Asvini, Mumbai, India.

In patients with Cerebral Venous Thrombosis (CVT), inherited and acquired thrombophilic conditions have been studied either individually or as subset of a comprehensive evaluation. None of the studies have included a comprehensive evaluation of all the known associations. The associations for various conditions have been found to differ significantly between the Indian and the Western population. Read More

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Case Report: Novel Mutation of F5 With Maternal Uniparental Disomy Causes Severe Congenital Factor V Deficiency.

Front Pediatr 2022 7;10:913050. Epub 2022 Jun 7.

Division of Neonatology, Department of Pediatrics, The Third Xiangya Hospital, Central South University, Changsha, China.

We summarized two cases of congenital factor V deficiency (FVD) associated with a novel F5 mutation, and analyzed the relationship of the clinical features and genetic characteristics in congenital FVD. Case 1 was a female newborn infant with remarkable bleeding who died of severe intracranial hemorrhage on day 42 after birth. She had significant prolongation of prothrombin time (PT) and activated partial thromboplastin time (APTT). Read More

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H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol.

Genes (Basel) 2022 Jun 6;13(6). Epub 2022 Jun 6.

Department of Chemical, Biological, Pharmaceutical, and Environmental Sciences, University of Messina, Viale Ferdinando Stagno D'Alcontres 31, 98166 Messina, Italy.

Recurrent pregnancy loss (RPL) is defined as the loss of two or more pregnancies, affecting approximately 1 to 3% of women worldwide. Scientific data highlight a possible correlation between thrombophilic genetic variants and RPL. H1299R variant in the factor V gene would lead to an increased thrombotic risk associated with frequent miscarriages. Read More

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Shining a light on thrombin activation.

Authors:
P Clint Spiegel

Blood 2022 06;139(24):3451-3453

Western Washington University.

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An Atypical Case of Idiopathic Purpura Fulminans.

J Pediatr Hematol Oncol 2022 Jun 8. Epub 2022 Jun 8.

Department of Hematology and Oncology Laval University Hospital, Quebec, QC.

Idiopathic purpura fulminans (PF) is rare but has been reported in pediatric patients, commonly following infections. We present a case of a 5-year-old boy, heterozygous for factor V Leiden, with no history of recent infections, who presented with PF secondary to acquired protein S deficiency. Despite initial supportive treatment, the patient required surgical fasciotomy and extensive skin grafts. Read More

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Positive pregnancy outcome in an anti-SSA positive female with SLE and factor V Leiden following bimonthly IVIG administration.

Authors:
Mln Dahl B Deleuran

Scand J Rheumatol 2022 Jun 7:1-3. Epub 2022 Jun 7.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

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Homozygous Factor V Leiden Complicated by Heparin-Induced Thrombocytopenia: A Case Report.

J Med Cases 2022 May 23;13(5):225-228. Epub 2022 Apr 23.

Department of Internal Medicine, Rush University Medical Center, Chicago, IL 60612, USA.

Homozygous factor V Leiden (FVL) is a rare condition, occurring in 0.2% of the white population. This disease's rarity and aggressive pathophysiology can represent a challenge even to the most experienced clinicians. Read More

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Freeze-dried plasma: From damage control resuscitation to coronavirus disease 2019 therapy.

Transfusion 2022 07 10;62(7):1408-1416. Epub 2022 Jun 10.

St. Michael's Hospital, Toronto, Ontario, Canada.

Background: Freeze-dried plasma (FDP) is a promising blood component for prehospital resuscitation given its logistic advantages over fresh frozen plasma (FFP). COVID-19 convalescent (CC) plasma has been used to treat coronavirus disease 2019 (COVID-19) patients, and its corresponding FDP has potential use during future pandemics. Therefore, we conducted the study to determine if the hemostatic and immunological properties of plasma can be retained after lyophilization. Read More

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Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations.

Int J Mol Sci 2022 May 22;23(10). Epub 2022 May 22.

Department of Genetics, Physiology and Microbiology, School of Biology, Complutense University, 28040 Madrid, Spain.

Factor V deficiency, an ultra-rare congenital coagulopathy, is characterized by bleeding episodes that may be more or less intense as a function of the levels of coagulation factor activity present in plasma. Fresh-frozen plasma, often used to treat patients with factor V deficiency, is a scarcely effective palliative therapy with no specificity to the disease. CRISPR/Cas9-mediated gene editing, following precise deletion by non-homologous end-joining, has proven to be highly effective for modeling on a HepG2 cell line a mutation similar to the one detected in the factor V-deficient patient analyzed in this study, thus simulating the pathological phenotype. Read More

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Frequency of Leiden Mutation in Newborns with Birth Weight below 1500 g.

Healthcare (Basel) 2022 May 6;10(5). Epub 2022 May 6.

Department of Technical Studies, College of Polytechnics, Tolsteho 16, 58601 Jihlava, Czech Republic.

It has been hypothesized that fetal prematurity or Intrauterine Growth Restriction (IUGR) could be related to the presence of factor V of Leiden mutation. This mutation is associated with a higher incidence of pregnancy difficulties that can result in preterm birth. The frequency of Leiden mutation was investigated in the group of newborns with a low birth weight below 1500 g over a six-year period from 2015 to 2020. Read More

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Factor V Leiden: Development of VTE in Surgery and Trauma Patients: A Systematic Review.

Dimens Crit Care Nurs 2022 Jul-Aug 01;41(4):190-199

Background: Factor V Leiden (FVL) is a hereditary thrombophilia, which causes the blood to be more hypercoagulable; in essence, the blood tends to clot more easily, especially under certain circumstances. It is the most common genetic mutation, causing thrombophilia in patients of white background. Patients that have FVL are at a higher risk to develop venous thromboembolism (VTE) after surgery and trauma. Read More

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Whole blood samples for faster real-time PCR analysis of thrombophilic mutations in SARS-CoV-2 virus positive patients.

Physiol Res 2022 Jul 26;71(3):439-445. Epub 2022 May 26.

Institute of Clinical Biochemistry and Diagnostics, Charles University Hospital, Hradec Králové, Czech Republic.

High incidence of thrombosis and venous thromboembolism was reported in patients with COVID-19. In this study, we focused on analysis of thrombophilic mutations performed without a standard DNA extraction step. In one hundred of COVID-19 positive outpatients, real-time PCR for Leiden mutation in the FV gene and G20210A mutation in the FII gene was carried out from DNA extracts and modified whole blood samples, and their cycle threshold (Ct) values were evaluated. Read More

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Factor V deficiency with a unique genetic mutation presenting as post-circumcision bleeding in a neonate, A-case-report.

Ann Med Surg (Lond) 2022 Jun 5;78:103723. Epub 2022 May 5.

Al-Quds University, School of Medicine, East Jerusalem, West Bank, Palestine.

Introduction And Importance: Factor V deficiency is a rare bleeding disorder with varying presentations from minor mucosal bleeding to a life-threatening postoperative bleed. Currently, treatment is mainly supportive with Fresh Frozen Plasma.

Case Presentation: A previously healthy 14-day-old male presented with an uncontrollable bleeding following a circumcision. Read More

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First-in-human study with ACT-1014-6470, a novel oral complement factor 5a receptor 1 (C5aR1) antagonist, supported by pharmacokinetic predictions from animals to patients.

Basic Clin Pharmacol Toxicol 2022 Aug 8;131(2):114-128. Epub 2022 Jun 8.

Department of Clinical Pharmacology, Idorsia Pharmaceuticals Ltd, Allschwil, Switzerland.

Aberrantly controlled activation of the complement system contributes to inflammatory diseases. Safety, tolerability, and pharmacokinetics of single-ascending doses of ACT-1014-6470, a novel orally available complement factor 5a receptor 1 antagonist, were assessed in a randomized, double-blind, placebo-controlled Phase 1 study. Six ACT-1014-6470 doses (0. Read More

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The prognostic role of extended preoperative hypercoagulability work-up in high-risk microsurgical free flaps: a single-center retrospective case series of patients with heterozygotic factor V Leiden thrombophilia.

BMC Surg 2022 May 14;22(1):190. Epub 2022 May 14.

Department of Hand, Plastic and Reconstructive Surgery, Burn Center, BG Trauma Center Ludwigshafen, Plastic- and Hand Surgery, University of Heidelberg, Ludwig-Guttmann-Str. 13, 67071, Ludwigshafen, Germany.

Introduction: Hypercoagulability is associated with an increased risk of microvascular complications and free flap failures. The authors present their experience and approach to diagnosing and treating patients with heterozygotic factor V Leiden (hFVL) thrombophilia undergoing free flap reconstruction.

Methods: Between November 2009 and June 2018, 23 free flap surgeries were performed in 15 hypercoagulable patients with hFVL. Read More

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