2,924 results match your criteria Antithrombin Deficiency

Alpha 2-antiplasmin deficiency in a Sudanese child: a case report.

J Med Case Rep 2021 May 7;15(1):238. Epub 2021 May 7.

Hematology Department, Faculty of Medical Laboratory Sciences, Port Sudan Ahlia College, Port Sudan, Sudan.

Background: The plasma serine protease inhibitor alpha 2-antiplasmin (α-AP, otherwise known as α-plasmin inhibitor) is a rapid-acting plasmin inhibitor recently found in human plasma, which seems to have a significant role in the regulation of in vivo fibrinolysis. Congenital deficiency of α-AP is extremely uncommon.

Case Presentation: We report here a case of absolute deficiency of α-AP in an 11-year-old Sudanese boy, who had a lifelong intermittent hemorrhagic tendency (gum bleeding, epistaxis, and exaggerated bleeding after trauma). Read More

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Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.

Biomolecules 2021 Apr 8;11(4). Epub 2021 Apr 8.

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

Antithrombin (AT) is a serine protease inhibitor, its activity is highly accelerated by heparin. Mutations at the heparin-binding region lead to functional defect, type II heparin-binding site (IIHBS) AT deficiency. The aim of this study was to investigate and compare the molecular background of AT Budapest 3 (p. 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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Hemostatic rebalance in neonatal intrahepatic cholestasis with citrin deficiency.

Pediatr Int 2021 Apr 13. Epub 2021 Apr 13.

Department of Pediatrics, Nara Medical University, Kashihara, Nara, 634-8522, Japan.

Background: Neonatal intrahepatic cholestasis with citrin deficiency (NICCD) results in coagulopathy due to decreased levels of vitamin (V)K-dependent clotting factors, similar to biliary atresia (BA). However, the involvement of VK-independent coagulant and anticoagulant factor(s) remains unknown.

Aims: To examine relationships between coagulant and anticoagulant potential, with addition to the influence of nutritional treatment, in NICCD. Read More

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[Thrombosis of the inferior vena cava and right atrium in a neonate with thrombophilia: diagnosis, treatment, result].

Angiol Sosud Khir 2021 ;27(1):169-174

Cardiosurgical Department, Research Institute for Complex Problems of Cardiovascular Diseases, Kemerovo, Russia.

Hereditary thrombophilia is rare pathology giving rise to a ninefold increase in the risk for the development of thromboembolism in infants. The problem is multifactorial and characterized by high mortality, especially in neonates. Infants who develop thrombosis, particularly those with no family history, are often subjected to testing for hereditary thrombophilia. Read More

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Systemic lupus erythematosus combined with primary hyperfibrinolysis and protein C and protein S deficiency: A case report.

World J Clin Cases 2021 Mar;9(8):2008-2014

Department of Hematology, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.

Background: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by systemic involvement and multiple autoantibodies in the serum. Patients with protein C (PC) and protein S (PS) deficiency are prone to thrombosis. In contrast, patients with primary hyperfibrino-lysis tend to bleed. Read More

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A pilot study on the impact of congenital thrombophilia in COVID-19.

Eur J Clin Invest 2021 May 25;51(5):e13546. Epub 2021 Mar 25.

Servicio de Hematología y Oncología Médica, Centro Regional de Hemodonación, Hospital Universitario Morales Meseguer, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

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Ilio-femoral venous thrombosis with hereditary antithrombin deficiency: a case report of rare thrombotic disease and successful treatment with catheter directed thrombolysis.

Eur Heart J Case Rep 2021 Feb 24;5(2):ytaa531. Epub 2020 Dec 24.

Department of Cardiology, Shonan Kamakura General Hospital, 1370-1 Okamoto, Kamakura 247-8533, Japan.

Background: Hereditary antithrombin (AT) deficiency is an uncommon autosomal dominant thrombogenic disorder, which can cause venous thromboembolism (VTE). Although conservative treatment options for hereditary AT deficiency-associated VTE such as anticoagulation (warfarin, direct oral anticoagulant, or heparin), intravenous thrombolysis, and recombinant AT are well known, interventional treatment options have not been reported so far.

Case Summary: A 19-year-old man with a family history of thrombogenic diseases, referred to our hospital with left leg pain, was diagnosed with AT deficiency-associated VTE. Read More

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February 2021

Primary prophylaxis of venous thromboembolic disease with direct oral anticoagulants in patients with severe inherited thrombophilia.

Res Pract Thromb Haemost 2021 Feb 17;5(2):261-264. Epub 2021 Feb 17.

Hemostasis and Thrombosis Unit Division of Hematology Cliniques Universitaires Saint-Luc Université Catholique de Louvain (UCLouvain) Brussels Belgium.

Direct oral anticoagulants (DOACs) are widely used in several indications, but data on their efficacy and safety in individuals affected by severe inherited thrombophilia, yet without any personal history of thrombosis, is lacking. Severe inherited thrombophilia abnormalities, especially antithrombin deficiency, confer a higher risk of developing venous thromboembolism (VTE) than is the case in the general population. In this article, we propose primary prevention with low-dose DOACs for certain patients with severe inherited thrombophilia but without any personal history of VTE, while taking into consideration the type of thrombophilia, family history, comorbidities, and bleeding risk. Read More

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February 2021

Antithrombin deficiency: A pediatric disorder.

Thromb Res 2021 Mar 3;202:45-51. Epub 2021 Mar 3.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA. Electronic address:

Introduction: Hereditary antithrombin (AT) deficiency is an autosomal dominant thrombophilic disorder. Guidelines do not support routine testing of children based on personal or familial thrombosis.

Aim: To investigate clinical, genetic and laboratory profiles of AT deficient children and their affected family members. Read More

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Venous thromboembolism incidence and risk factors in adults with acute lymphoblastic leukemia treated with and without pegylated E. coli asparaginase-containing regimens.

Cancer Chemother Pharmacol 2021 Mar 7. Epub 2021 Mar 7.

Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.

Purpose: Asparaginases, key agents in treatment of acute lymphoblastic leukemia (ALL), are associated with venous thromboembolism (VTE). While risks of short-acting asparaginase-related VTE is well-known, we studied VTE incidence and risk factors in adult ALL patients treated with and without long-acting pegylated asparaginase (PegA).

Methods: Single-center, retrospective analysis of 89 ALL patients treated with (n = 61) or without (n = 28) PegA at Greenebaum Comprehensive Cancer Center. Read More

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Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.

Int J Mol Sci 2021 Feb 20;22(4). Epub 2021 Feb 20.

Institute of Experimental Hematology and Transfusion Medicine, University of Bonn, Venusberg-Campus 1, 53127 Bonn, Germany.

Inactivation of thrombin by the endogenous inhibitor antithrombin (AT) is a central mechanism in the regulation of hemostasis. This makes hereditary AT deficiency, which is caused by SERPINC1 gene mutations, a major thrombophilic risk factor. Aim of this study was to assess to what extent AT mutations impair thrombin inhibition kinetics. Read More

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February 2021

Intraoperative Hypotension in a Patient with Antithrombin Deficiency, Bilateral Pulmonary Emboli, and Cefazolin Allergy.

Cureus 2021 Mar 2;13(3):e13653. Epub 2021 Mar 2.

Anesthesiology/Pain Medicine, H Lee Moffitt Cancer Center and Research Institute, Tampa, USA.

In medicine, the search for a clear answer can at times be elusive. However, this does not necessarily preclude the administration of intelligent and thoughtful therapeutic treatments. Here, we describe a complicated emergent event of severe hypotension and near-arrest that occurred in the operating room in a young, healthy woman undergoing outpatient thyroid surgery. Read More

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The risk of arterial thrombosis in carriers of natural coagulation inhibitors: a prospective family cohort study.

Intern Emerg Med 2021 Feb 22. Epub 2021 Feb 22.

Chair of Internal Medicine, Thrombotic and Haemorrhagic Diseases Unit, Department of Medicine, University of Padua Medical School, Padua, Italy.

Background: Whether the carriership of inherited antithrombin (AT), protein C (PC), and protein S (PS) deficiency increases the risk of arterial thromboembolic events (ATE) is controversial. This information has the potential to inform the management of family members of probands with inherited deficiency of natural anticoagulants.

Patients/methods: We conducted a large prospective family cohort study in 640 subjects (of whom 341 carriers and 299 non-carriers) belonging to 86 families with inherited deficiency of AT, PC, or PS. Read More

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February 2021

Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.

Front Cardiovasc Med 2020 5;7:617711. Epub 2021 Feb 5.

Department of Public Health and Epidemiology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

Antithrombin (AT) is one of the most important regulator of hemostasis. AT Budapest 3 (ATBp3) is a prevalent type II heparin-binding site (IIHBS) deficiency due to founder effect. Thrombosis is a complex disease including arterial (ATE) and venous thrombotic events (VTE) and the Roma population, the largest ethnic minority in Europe has increased susceptibility to these diseases partly due to their unfavorable genetic load. Read More

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February 2021

Hereditary thrombophilia and recurrent pregnancy loss: a systematic review and meta-analysis.

Hum Reprod 2021 Apr;36(5):1213-1229

Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Hunan 410078, China.

Study Question: Is there an association between hereditary thrombophilia in pregnant women and risk of recurrent pregnancy loss (RPL)?

Summary Answer: Pregnant women with hereditary thrombophilia have an increased risk of RPL, especially for pregnant women with the G1691A mutation of the factor V Leiden (FVL) gene, the G20210A mutation of the prothrombin gene (PGM), and deficiency of protein S (PS).

What Is Known Already: Prior studies have suggested that pregnant women with hereditary thrombophilia have a higher risk of RPL, however, the results are inconsistent; furthermore, a complete overview is missing. This lack of information is an obstacle to the risk assessment of RPL in pregnant women with hereditary thrombophilia. Read More

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Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Res Pract Thromb Haemost 2021 Jan 27;5(1):179-186. Epub 2020 Nov 27.

Department of Molecular Pathogenesis National Cerebral and Cardiovascular Center Suita Japan.

Background: Genetic deficiencies of antithrombin (AT), protein C (PC), and protein S (PS) are risk factors for venous thromboembolism. In the general population, the prevalence of heterozygous deficiency of AT, PC, and PS are reported as approximately 0.02%-0. Read More

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January 2021

Relevance of Inherited Thrombophilia Screening in Adult Kidney Transplant Recipients.

Exp Clin Transplant 2021 Mar 1;19(3):212-216. Epub 2021 Feb 1.

From the Hematology Department, La Rabta Hospital, Tunis, Tunisia.

Objectives: Thrombophilia has been implicated in posttransplant thrombosis. Data concerning the impact of thrombophilia on thrombotic risk in renal graft recipients are inconclusive. We evaluated whether identification of thrombophilia in patients during pretransplant laboratory screening was a predictor of posttransplant outcomes. Read More

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Heparin-Free Lung Transplantation on Venovenous Extracorporeal Membrane Oxygenation Bridge.

ASAIO J 2021 Jan 28. Epub 2021 Jan 28.

From the Department of Anesthesia, Critical Care and Emergency, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy Department of Thoracic Surgery and Lung Transplant, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

Extracorporeal membrane oxygenation (ECMO) bridge to lung transplantation (LuTX) exposes the patients to a high risk of perioperative bleeding secondary to systemic anticoagulation and coagulation factors deficiency. With this case series, we propose innovative "no-heparin" management of ECMO-bridge support during LuTX, based upon 1) control heparin resistance with antithrombin III in the preoperative period; 2) relying upon a fully functional, brand new heparinized ECMO circuit; 3) completely avoiding perioperative heparin; 4) hampering fibrinolysis with tranexamic acid; and 5) limiting venoarterial (VA) ECMO escalation, and the following need for full anticoagulation. Following the application of this new approach, we carried out three challenging clinical cases of bilateral ECMO-bridged LuTX effectively, with limited intraoperative blood requirement and no major postoperative bleeding or thromboembolic events. Read More

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January 2021

Antithrombin Dose Optimization in Extracorporeal Membrane Oxygenation in Infants.

ASAIO J 2021 Jan 28. Epub 2021 Jan 28.

From the Department of Pharmacy, St. Louis Children's Hospital, St. Louis, Missouri Department of Nursing, St. Louis Children's Hospital, St. Louis, Missouri Division of Critical Care Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri Division of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

Anticoagulation in extracorporeal membrane oxygenation (ECMO) is challenging, with significant morbidity and mortality associated with thrombotic complications. Unfractionated heparin (UFH) is commonly used, which depends on native antithrombin (AT) function to exert anticoagulant effects. Antithrombin deficiency is common in infants on ECMO and replacement with AT concentrate may be warranted. Read More

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January 2021

Janus Kinase-2 Mutation Associated Portal Vein Thrombosis Complicating Liver Cirrhosis and Hepatocellular Carcinoma.

Asian Pac J Cancer Prev 2021 Jan 1;22(1):267-275. Epub 2021 Jan 1.

Departments of Clinical Pathology, National Liver Institute, Menoufia University, Egypt.

Background: Portal vein thrombosis (PVT) might be a catastrophic event complicating liver cirrhosis and hepatocellular carcinoma (HCC).

Aim: role of JAK2 RS V617F mutation as a risk factor for PVT development in liver cirrhosis and HCC.

Methods: A case control study conducted on 100 PVT patients (76 HCC and 24 liver cirrhosis) additionally, 100 healthy individuals used as a control group. Read More

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January 2021

Targeted deletion of HAI-1 increases prostasin proteolysis but decreases matriptase proteolysis in human keratinocytes.

Hum Cell 2021 May 24;34(3):771-784. Epub 2021 Jan 24.

Lombardi Comprehensive Cancer Center, Department of Oncology, Georgetown University, W412 Research Building 3970 Reservoir Road NW, Washington, DC, 20057, USA.

Epidermal differentiation and barrier function require well-controlled matriptase and prostasin proteolysis, in which the Kunitz-type serine protease inhibitor HAI-1 represents the primary enzymatic inhibitor for both proteases. HAI-1, however, also functions as a chaperone-like protein necessary for normal matriptase synthesis and intracellular trafficking. Furthermore, other protease inhibitors, such as antithrombin and HAI-2, can also inhibit matriptase and prostasin in solution or in keratinocytes. Read More

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The changing treatment landscape in haemophilia: from standard half-life clotting factor concentrates to gene editing.

Lancet 2021 Feb 15;397(10274):630-640. Epub 2021 Jan 15.

Pediatrics and Pathology, University of Michigan, Ann Arbor, MI, USA.

Congenital haemophilia A (factor VIII deficiency) and B (factor IX deficiency) are X-linked bleeding disorders. Replacement therapy has been the cornerstone of the management of haemophilia, aiming to reduce the mortality and morbidity of chronic crippling arthropathy. Frequent intravenous injections are burdensome and costly for patients, consequently with poor adherence and restricted access to therapy for many patients worldwide. Read More

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February 2021

Multidisciplinary approach to the complex treatment for non-cirrhotic portal hypertension - case-report-based discussion.

Z Gastroenterol 2021 Jan 11;59(1):43-49. Epub 2021 Jan 11.

I. Medizinische Klinik und Poliklinik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Germany.

Non-cirrhotic portal vein thrombosis (PVT) in patients with antiphospholipid syndrome (APS) is a rare complication, and the management has to be determined individually based on the extent and severity of the presentation. We report on a 37-year-old male patient with non-cirrhotic chronic PVT related to a severe thrombophilia, comprising APS, antithrombin-, factor V- and factor X-deficiency. Three years after the initial diagnosis of non-cirrhotic PVT, the patient presented with severe hemorrhagic shock related to acute bleeding from esophageal varices, requiring an emergency transjugular intrahepatic portosystemic stent shunt (TIPSS). Read More

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January 2021

N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function.

Int J Mol Sci 2021 Jan 6;22(2). Epub 2021 Jan 6.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia Campus Mare Nostrum, IMIB-Arrixaca, 30008 Murcia, Spain.

N-linked glycosylation is a crucial post-translational modification involved in protein folding, function, and clearance. N-linked glycosylation is also used therapeutically to enhance the half-lives of many proteins. Antithrombin, a serpin with four potential N-glycosylation sites, plays a pivotal role in hemostasis, wherein its deficiency significantly increases thrombotic risk. Read More

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January 2021

Epidemiological Characteristics and Etiology of Budd-Chiari Syndrome in Upper Egypt.

J Blood Med 2020 30;11:515-524. Epub 2020 Dec 30.

Department of Internal Medicine, Helwan University, Helwan, Egypt.

Background And Objectives: Budd-Chiari syndrome (BCS) is a rare disorder caused by obstruction to hepatic venous outflow. It affects all races, usually during the third or fourth decade of life. Higher prevalence had being evident in developing countries. Read More

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December 2020

A Novel Mutation p.Asp374Val of in a Turkish Family with İnherited Antithrombin Deficiency.

Deniz Aslan

Turk J Haematol 2021 Jan 6. Epub 2021 Jan 6.

Gazi University Faculty of Medicine, Department of Pediatrics, Ankara, Turkey.

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January 2021

Cerebral venous sinus thrombosis in child with antithrombin deficiency and novel SERPINC1 variant.

Acta Neurol Belg 2021 Jan 4. Epub 2021 Jan 4.

Department of Neurosurgery, Osaka General Medical Center, 3-1-56 Bandai-higashi, Sumiyoshi-ku, Osaka, 558-8558, Japan.

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January 2021

Anticoagulation Resumption in a Patient With Mechanical Heart Valves, Antithrombin Deficiency, and Hemorrhagic Transformation Following Thrombectomy After Ischemic Stroke.

Front Pharmacol 2020 16;11:549253. Epub 2020 Dec 16.

Department of Pharmacy, Nanjing University Medical School Affiliated Nanjing Drum Tower Hospital, Nanjing, China.

Anticoagulation is essential for patients undergoing mechanical heart valve replacement; however, the timing to reinitiate the anticoagulant could be a dilemma that imposes increased risk for bleeding events in patients suffering from the life-threatening hemorrhagic transformation (HT) after ischemic stroke. Such a situation was presented in this case report. A 71-year-old woman was transferred directly to the Neurocritical Care Unit because of a HT that occurred following the mechanical thrombectomy for ischemic stroke. Read More

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December 2020

The Effect of Direct Oral Anticoagulants on Antithrombin Activity Testing Is Abolished by DOAC-Stop in Venous Thromboembolism Patients.

Arch Pathol Lab Med 2021 01;145(1):99-104

From the Institute of Cardiology, Jagiellonian University Medical College and John Paul II Hospital, Kraków, Poland (Ząbczyk, Natorska, Kopytek, Undas).

Context.—: Direct oral anticoagulants (DOACs) may cause false negative results of antithrombin (AT) deficiency screening.

Objective. Read More

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January 2021