2,757 results match your criteria Antithrombin Deficiency


Utility of current thrombophilia screening in young patients with stroke and TIA.

Stroke Vasc Neurol 2018 Dec 12;3(4):231-236. Epub 2018 Sep 12.

Hyper-acute Stroke Unit, University College London Hospitals NHS Foundation Trust, London, UK.

Introduction: Approximately 40% of strokes in young adults are cryptogenic. The diagnostic yield of thrombophilia screening remains controversial. We aimed to determine utility of current thrombophilia testing for young patients with stroke and transient ischaemic attack (TIA). Read More

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http://dx.doi.org/10.1136/svn-2018-000169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312074PMC
December 2018

Sticky Platelet Syndrome: 35 Years of Growing Evidence.

Semin Thromb Hemost 2019 Jan 10. Epub 2019 Jan 10.

Department of Haematology and Transfusion Medicine, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovakia.

Since the identification of antithrombin deficiency by Egeberg in 1956, ongoing research in prothrombotic defects continues to progress. Interestingly, past research has predominantly focused on coagulation factors and not on other components of the hemostatic system. The possible role of platelet function defects in the development of thrombotic events was suggested for the first time in the late 1970s, when an increased platelet adhesiveness and aggregation after epinephrine (EPI) and adenosine diphosphate (ADP) was found in a group of patients with unexplained transient ischemic attack. Read More

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http://dx.doi.org/10.1055/s-0038-1676581DOI Listing
January 2019

A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

Medicine (Baltimore) 2019 Jan;98(1):e13999

Department of Vascular Surgery, The Second Xiangya Hospital of Central South University.

Rationale: Deep vein thrombosis (DVT) is the formation of a blood clot formed in the deep veins of the lower limbs. Known genetic factors of DVT include deficiencies of antithrombin (AT), protein C, protein S, factor V Leiden mutation, and prothrombin G20210A mutation. Here, a 5-generation Chinese family with inherited DVT was recruited for genetic analysis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013999DOI Listing
January 2019
2 Reads

MPI-CDG with transient hypoglycosylation and antithrombin deficiency.

Haematologica 2018 Dec 13. Epub 2018 Dec 13.

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

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http://dx.doi.org/10.3324/haematol.2018.211326DOI Listing
December 2018

[Thrombophilia in systemic lupus erythematosus: A case-control study].

J Med Vasc 2018 Dec 31;43(6):347-353. Epub 2018 Oct 31.

Service de médecine interne, CHU la Rabta de Tunis, rue Jbel Lakhdar,La Rabta Jebbari, 1007 Tunis, Tunisie.

Introduction: To investigate the thrombotic tendency in patients with systemic lupus erythematosus (SLE) by evaluating congenital and acquired abnormalities with an increased risk of thrombosis.

Patients And Methods: A total of 53 patients with SLE were included in the study. Fifty-three healthy controls paired by age and sex were assessed. Read More

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http://dx.doi.org/10.1016/j.jdmv.2018.09.001DOI Listing
December 2018
1 Read

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Gene 2019 Mar 20;687:280-288. Epub 2018 Nov 20.

Gazi University Faculty of Medicine, Department of Pediatric Metabolic Disorders, Ankara, Turkey; Gazi University Faculty of Medicine, Department of Pediatric Genetic Disorders, Ankara, Turkey. Electronic address:

Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A. The families of 11 index cases were screened by enzyme and molecular assays. Further clinical and laboratory investigations were carried out in all cases. Read More

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http://dx.doi.org/10.1016/j.gene.2018.11.054DOI Listing
March 2019
2 Reads

The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications.

Thromb Res 2019 Jan 7;173:12-19. Epub 2018 Nov 7.

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

Background: Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the SERPINC1 gene. The most common clinical presentation in AT deficient patients includes venous thrombosis and pulmonary embolism, while the association of AT deficiency and its effect on the development of pregnancy complications has been less studied. The aim of our research was to evaluate the effect of AT deficiency types, determined by genotyping, on pregnancy outcomes. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.11.006DOI Listing
January 2019
1 Read

Safe childbirth for a type 1 antithrombin-deficient woman with novel mutation in the SERPINC1 gene undergoing antithrombin concentrate therapy.

Blood Coagul Fibrinolysis 2018 Nov 13. Epub 2018 Nov 13.

Department of Hematology, Clinical Immunology and Infectious Diseases.

: Inherited antithrombin (AT) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I AT deficiency and identified the causative mutation; a novel c.7430A>G missense mutation in the SERPINC1 gene in which tyrosine was substituted for cysteine at the 292nd amino acid. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000785DOI Listing
November 2018
5 Reads

Alterations of anticoagulant proteins and soluble endothelial protein C receptor in thalassemia patients of Chinese origin.

Thromb Res 2018 12 18;172:61-66. Epub 2018 Oct 18.

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province 530021, China. Electronic address:

Background: Thalassemia is characterized by a hypercoagulable state in which the protein C (PC) pathway controls thrombosis. We investigated changes in PC, protein S (PS), antithrombin III (AT III) and soluble endothelial protein C receptor (sEPCR) in thalassemia.

Methods: A group of 129 patients with β-thalassemia major (β-TM), β-thalassemia intermedia (β-TI), α-thalassemia intermedia (α-TI) and combined α-/β-thalassemia (α + β-thal) were compared with 32 gender- and age-matched controls. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.10.016DOI Listing
December 2018
1 Read

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
4 Reads

Left subclavian and right femoral vein thrombosis in a pregnant patient with antithrombin deficiency.

J Cardiol Cases 2018 Oct 23;18(4):149-151. Epub 2018 Jul 23.

Department of Emergency Medicine, Hiroshima Citizens Hospital, Hiroshima, Japan.

Pregnancy is well-known risk factor for deep vein thrombosis (DVT), which usually occurs during the third trimester and in the left-sided lower extremity. We present a case of left subclavian and right femoral vein thrombosis in a pregnant woman with a gestational age of 10 weeks. A 39-year-old woman visited the emergency department complaining of acute pain and swelling of the left upper arm and right lower extremity. Read More

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http://dx.doi.org/10.1016/j.jccase.2018.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149647PMC
October 2018
1 Read

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.

Oncotarget 2018 Sep 4;9(69):33202-33214. Epub 2018 Sep 4.

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

Nature is always the best inspiration for basic research. A family with severe thrombosis and antithrombin deficiency, the strongest anticoagulant, carried a new mutation affecting the translation-start codon of , the gene encoding antithrombin. Expression of this variant in a eukaryotic cell system produced three different antithrombins. Read More

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http://dx.doi.org/10.18632/oncotarget.26059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145704PMC
September 2018
1 Read

Genetics of Hypercoagulable and Hypocoagulable States.

Neurosurg Clin N Am 2018 Oct;29(4):493-501

Department of Hematology and Oncology, Loyola University Medical Center, 2160 South First Avenue, Maywood, IL 60153, USA.

Hemostasis is the normal process of blood coagulation in vivo to stop pathologic bleeding. Virchow triad includes venous stasis, hypercoagulability, and vascular injury. Natural anticoagulants include protein C, protein S, and antithrombin. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10423680183086
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http://dx.doi.org/10.1016/j.nec.2018.06.002DOI Listing
October 2018
8 Reads
1.542 Impact Factor

Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35-year-old woman: A case report and genetic study on the pedigree.

Exp Ther Med 2018 Sep 25;16(3):2677-2681. Epub 2018 Jul 25.

Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, P.R. China.

Deficiency of protein C may cause deep venous thrombosis and pulmonary embolism, leading to ischemic stroke. The present study reports on a case of a young adult with recurrent cerebellar infarction due to hereditary heterozygous protein C deficiency and performs a literature review. A 35-year-old Asian woman was admitted t o the Department of Neurology of The First Affiliated Hospital of Guangxi Medical University (Nanning, China) due to right limb paralysis and vomiting. Read More

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http://www.spandidos-publications.com/10.3892/etm.2018.6518
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http://dx.doi.org/10.3892/etm.2018.6518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122579PMC
September 2018
6 Reads

Antithrombin deficiency is associated with mortality and impaired organ function in septic pediatric patients: a retrospective study.

PeerJ 2018 5;6:e5538. Epub 2018 Sep 5.

Department of Sports Medicine, Alpine Medicine and Health Tourism, UMIT - University for Health Sciences, Medical Informatics and Technology, Hall in Tirol, Austria.

Background: Sepsis remains a major problem in intensive care medicine. It is often accompanied by coagulopathies, leading to thrombotic occlusion of small vessels with subsequent organ damage and even fatal multi-organ failure. Prediction of the clinical course and outcome-especially in the heterogeneous group of pediatric patients-is difficult. Read More

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https://peerj.com/articles/5538
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http://dx.doi.org/10.7717/peerj.5538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129139PMC
September 2018
6 Reads

An investigational RNAi therapeutic targeting antithrombin for the treatment of hemophilia A and B.

J Blood Med 2018 22;9:135-140. Epub 2018 Aug 22.

Department of Medicine, University of Pittsburgh, Hemophilia Center of Western Pennsylvania, Pittsburgh, PA, USA,

Fitusiran is an RNA interference therapeutic that targets antithrombin (AT) in the liver and interferes with AT translation by binding and degrading messenger RNA-AT, thereby silencing AT gene expression and preventing AT synthesis. In both preclinical and clinical studies, AT knockdown results in dose-dependent AT lowering when fitusiran is given weekly or monthly subcutaneously. In clinical trials, fitusiran dose escalation has resulted in improved thrombin generation and clinical hemostasis as measured by reduction in annualized bleed rate. Read More

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http://dx.doi.org/10.2147/JBM.S159297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110283PMC
August 2018
1 Read

It's all in your genes.

Thromb Res 2018 09;169:157

Ottawa Hospital, Box 201, 451 Smyth rd, Ottawa, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2018.08.009DOI Listing
September 2018
16 Reads

Monitoring Fondaparinux in the Setting of Antithrombin Deficiency.

Lab Med 2018 Aug 24. Epub 2018 Aug 24.

Department of Pathology, Keck School of Medicine of the University of Southern California, Los Angeles.

Heparin-induced thrombocytopenia (HIT) is a not-uncommon adverse effect of heparin exposure, with potentially serious and/or fatal thrombotic consequences. Recent studies looking at the off-label use of fondaparinux for HIT show similar efficacy and adverse-effect profiles, as well as improved costs, compared with some commonly used direct thrombin inhibitors. Although routine laboratory monitoring of fondaparinux-specific anti-Xa levels typically is not recommended, we present a case report that suggests fondaparinux monitoring may be needed in patients with hepatic impairment causing acquired antithrombin deficiency. Read More

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http://dx.doi.org/10.1093/labmed/lmy054DOI Listing
August 2018
14 Reads

An Audit of Thrombophilia Testing in Patients with Ischemic Stroke or Transient Ischemic Attack: The Futility of Testing.

J Stroke Cerebrovasc Dis 2018 Nov 22;27(11):3301-3305. Epub 2018 Aug 22.

Department of Pathology, Division of Transfusion Medicine and Hemostasis, University of Texas Southwestern Medical Center, Dallas, Texas. Electronic address:

Objectives: Many patients admitted with an ischemic stroke or transient ischemic attack (TIA) undergo thrombophilia testing. There is limited evidence to support this practice. We examined the effect of thrombophilia testing on management of patients admitted with an ischemic stroke or TIA. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.07.032DOI Listing
November 2018
12 Reads

Prothrombotic markers in Thalassemia major patients: A paradigm shift.

Med J Malaysia 2018 Aug;73(4):185-189

Liaquat National Hospital and Medical College, Department of Biostatics, Karachi, Pakistan.

Background: It is being increasingly recognised that thalassemia major patients, like intermedia, have increased propensity for thromboembolism. Deficiency of natural anticoagulants is more recently defined finding contributing to the hypercoagulable state. The aim this study is to determine natural anticoagulants levels and their correlation with maternal characteristics, haematological and biochemical markers. Read More

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August 2018
15 Reads

Isolation of recombinant human antithrombin isoforms by Cellufine Sulfate affinity chromatography.

J Chromatogr B Analyt Technol Biomed Life Sci 2018 Sep 2;1095:198-203. Epub 2018 Jul 2.

Bio Process Research and Development Laboratories, Production Division, Kyowa Hakko Kirin Co., Ltd., Takasaki, Gunma 370-0013, Japan.

Human antithrombin (hAT) is a major serine protease inhibitor that regulates blood coagulation in human plasma, and it has been applied for the treatment of antithrombin (AT) deficiency and disseminated intravascular coagulation (DIC). In the past, hAT for therapeutic use has been obtained from human plasma; however, hAT can now be sourced from transgenic animals and Chinese hamster ovary (CHO) cells by recombinant technology. The dominant form of hAT in plasma is the α form, which is glycosylated with four oligosaccharides and sialylated at its terminals. Read More

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http://dx.doi.org/10.1016/j.jchromb.2018.07.001DOI Listing
September 2018
2 Reads

Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene.

Curr Med Sci 2018 Apr 30;38(2):379-385. Epub 2018 Apr 30.

Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

This study aimed to explore the mechanism of a novel mutation (p.Lys38Glu) in apolipoprotein H (APOH) gene causing hereditary beta2-glycoprotein I (β2GPI) deficiency and thrombosis in a proband with thrombophilia. The plasma level of β2GPI was measured by ELISA and Western blotting, and anti-β2GPI antibody by ELISA. Read More

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http://dx.doi.org/10.1007/s11596-018-1889-yDOI Listing
April 2018
7 Reads

Thrombophilia Associated with Early Post-angioplasty Thrombosis of Dialysis Vascular Access.

Cardiovasc Intervent Radiol 2018 Nov 31;41(11):1683-1690. Epub 2018 Jul 31.

Cardiovascular Center, National Taiwan University Hospital, Hsinchu Branch, Jingo Road, Section 1 Lane 442, No. 25, Hsinchu City, Taiwan.

Aim: Percutaneous transluminal angioplasty (PTA) is widely used as the primary treatment for dialysis vascular access dysfunction. Nonetheless, many patients develop early occlusion after angioplasty. Thus, we investigated the role of thrombophilia in access occlusion within 30 days of angioplasty. Read More

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http://dx.doi.org/10.1007/s00270-018-2046-5DOI Listing
November 2018

[Recommendations for the Use of Indirect and Direct Anticoagulants for Long-Term Prophylaxis after Venous Thromboembolism].

Zentralbl Chir 2018 Oct 27;143(5):526-532. Epub 2018 Jul 27.

Medizinisches Versorgungszentrum für Gefäßmedizin Nürnberg, Deutschland.

In routine clinical work, the dosage of direct oral anticoagulants for long-term maintenance therapy after acute deep vein thrombosis and pulmonary embolism is often made on an individual basis. As two doses are available for the preparations apixaban and rivaroxaban and no separate indication spectra have been specified. The working group of practising vascular physicians and surgeons in Germany has therefore developed this position paper. Read More

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http://dx.doi.org/10.1055/a-0612-8244DOI Listing
October 2018
2 Reads

Defects of splicing in antithrombin deficiency.

Res Pract Thromb Haemost 2017 Oct 14;1(2):216-222. Epub 2017 Jul 14.

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

Background: There is increasing evidence supporting the relevance of aberrant splicing in multiple disorders. In antithrombin deficiency only 22 intronic mutations affecting splicing sites (7% of mutations) are considered as splicing mutations.

Methods: was analyzed by Sanger sequencing and MLPA in 141 unrelated cases with antithrombin deficiency. Read More

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http://dx.doi.org/10.1002/rth2.12025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058262PMC
October 2017
13 Reads

The genetics of antithrombin.

Thromb Res 2018 09 5;169:23-29. Epub 2018 Jul 5.

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

Antithrombin is a key endogenous anticoagulant whose deficiency constitutes a strong risk factor for thrombosis. The study of antithrombin deficiency has generated excellent, and in some cases, surprising results that may be extrapolated to other thrombophilia and genetic disorders. Routine diagnosis of antithrombin deficiency is based on functional assays. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.07.008DOI Listing
September 2018
3 Reads

Non-genetic and genetic risk factors for adult cerebral venous thrombosis.

Thromb Res 2018 09 6;169:15-22. Epub 2018 Jul 6.

Institute of Cardiovascular Research, Royal Holloway, University of London (ICR2UL), Egham, United Kingdom. Electronic address:

Introduction: A wide variety of non-genetic and genetic factors have been shown to associate with increased risk for cerebral venous thrombosis (CVT). However, there is a paucity of risk factor data and conclusions about their impact are often conflicting. Herein, we quantified the associations of non-genetic and genetic risk factors for CVT in adults. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00493848183041
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http://dx.doi.org/10.1016/j.thromres.2018.07.005DOI Listing
September 2018
14 Reads

Overcoming heparin resistance in pregnant women with antithrombin deficiency: a case report and review of the literature.

J Med Case Rep 2018 Jun 16;12(1):169. Epub 2018 Jun 16.

Department of Obstetrics and Gynecology, Democritus University of Thrace, Alexandroupoli, Greece.

Background: The risk of thromboembolic events during pregnancy in patients with antithrombin deficiency is increased. Preventing thromboembolic events during pregnancy in the case of antithrombin deficiency is still a matter of concern.

Case Presentation: We present a case of a 19-year-old primigravida Greek Pomak woman, who was diagnosed as having congenital antithrombin deficiency. Read More

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http://dx.doi.org/10.1186/s13256-018-1711-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004088PMC
June 2018
2 Reads

β-Antithrombin, subtype of antithrombin deficiency and the risk of venous thromboembolism in hereditary antithrombin deficiency: A family cohort study.

Thromb Res 2018 08 2;168:47-52. Epub 2018 Jun 2.

Department of Haematology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

Hereditary antithrombin deficiency is associated with a high incidence of venous thromboembolism (VTE), but VTE risk differs between families. Beta-antithrombin is reported to be the most active isoform of antithrombin in vivo. Whether β-antithrombin activity and subtypes in antithrombin deficiency have impact on VTE risk has not been investigated outside the proband setting. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.06.004DOI Listing
August 2018
12 Reads

Association of hereditary antithrombin deficiency with intrauterine growth restriction.

Blood Coagul Fibrinolysis 2018 Jul;29(5):442-445

Faculty of medicine, Cairo University, Cairo, Egypt.

: Antithrombin is a major suppressor of thrombin, factor Xa and blood coagulation. Inherited antithrombin deficiency is rare and is considered among the common causes of inherited thrombophilia. The relationship between antithrombin and IUGR, is questionable. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000740DOI Listing
July 2018
2 Reads

Revisiting antithrombin in health and disease, congenital deficiencies and genetic variants, and laboratory studies on α and β forms.

Transfus Apher Sci 2018 Apr 19;57(2):291-297. Epub 2018 Apr 19.

International Consultancy in Blood Components Quality/Safety Improvement, Audit/Inspection and DDR Strategies, London, UK. Electronic address:

Antithrombin [AT] is the main inhibitor for activated plasma coagulation serine esterases, inhibiting thrombin, Factors Xa and IXa, but also Factors XIIa, XIa, VIIa, kallicrein, and plasmin. Its activity is highly enhanced by heparin, through binding to the pentasaccharide sequences, for inhibition of all coagulation proteases, except thrombin, which inhibition requires its additional binding to the heparin polysaccharide chain. However, AT is the major inhibitor of thrombin in the blood circulation. Read More

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http://dx.doi.org/10.1016/j.transci.2018.04.010DOI Listing
April 2018
1 Read

Role of thrombophilia in splanchnic venous thrombosis in acute pancreatitis.

Ann Gastroenterol 2018 May-Jun;31(3):371-378. Epub 2018 Mar 2.

Department of Radiology (Mandeep Kang), Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Background: Splanchnic venous thrombosis (SVT) is a common vascular complication of acute pancreatitis (AP). We conducted this study to prospectively investigate the frequency, risk factors, and extent of SVT in patients with AP and to evaluate the role of thrombophilia in its causation.

Methods: Patients with AP presenting between January 2015 and June 2016 were prospectively evaluated with contrast-enhanced computed tomography (CT) for the presence of SVT. Read More

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http://dx.doi.org/10.20524/aog.2018.0242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924861PMC
March 2018
3 Reads

Conservative management of neonatal cerebral sinovenous thrombosis with coexisting thrombophilia.

Blood Coagul Fibrinolysis 2018 Jun;29(4):399-403

Division of Pediatric Hematology/Oncology, Department of Pediatrics.

: Neonatal cerebral sinovenous thrombosis (CSVT) comprises approximately 50% of all pediatric-related CSVT. Although guidelines support anticoagulation in pediatric CSVT, the role of anticoagulation in neonatal CSVT remains controversial. This case report details the course of a neonate diagnosed with extensive CSVT and concurrent bilateral thalamic and intraventricular hemorrhage. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000731DOI Listing
June 2018
1 Read

Strategy for Cardiovascular Surgery in Patients with Antithrombin III Deficiency.

Ann Thorac Cardiovasc Surg 2018 Aug 20;24(4):187-192. Epub 2018 Apr 20.

Department of Cardiovascular Surgery, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.

Antithrombin III (ATIII) deficiency is a rare disorder in which thrombosis can be induced by stimuli that do not usually lead to thrombus formation, including minor injuries and surgery. Therefore, patients with ATIII deficiency undergoing cardiovascular surgery that involves heparinization require careful perioperative management. We experienced five patients with ATIII deficiency who underwent cardiovascular surgery and were managed with ATIII replacement. Read More

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http://dx.doi.org/10.5761/atcs.oa.18-00030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102604PMC

Pulmonary embolism presenting with acute abdominal pain in a girl with stable ankle fracture and inherited antithrombin deficiency.

Blood Res 2018 Mar 27;53(1):81-83. Epub 2018 Mar 27.

Department of Pediatrics, Health Science Institute, Gyeongsang National University College of Medicine, Jinju, Korea.

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http://dx.doi.org/10.5045/br.2018.53.1.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899002PMC
March 2018
1 Read

Evaluation of endogenous thrombin potential among patients with antithrombin deficiency.

Thromb Res 2018 06 7;166:50-53. Epub 2018 Apr 7.

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

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http://dx.doi.org/10.1016/j.thromres.2018.04.004DOI Listing
June 2018
3 Reads

Combined life-threatening thromboses and hemorrhages in a patient with afibrinogenemia and antithrombin deficiency.

Thromb J 2018 4;16. Epub 2018 Apr 4.

1Unité d'Hémostase Clinique, Hôpital Cardiologique Louis Pradel, 28, avenue Doyen J. Lepine, Bron, F-69500 Lyon, France.

Background: Patients with congenital afibrinogenemia suffer from spontaneous recurrent severe bleeding. While fibrinogen concentrates are known to effectively treat bleeding episodes, thrombotic complications often occur upon replacement therapy, rendering clinical management highly challenging.

Case Presentation: We hereby report a case of combined afibrinogenemia and congenital antithrombin deficiency manifested by recurrent life-threatening bleeding, as well as spontaneous severe arterial occlusion, such as acute coronary syndrome and stroke, and venous thromboses like pulmonary embolism. Read More

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http://dx.doi.org/10.1186/s12959-018-0162-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883424PMC
April 2018
16 Reads

Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome.

Ann Biol Clin (Paris) 2018 Apr;76(2):217-223

Service d'hématologie biologique, Hôpital Lariboisière, AP-HP, Paris, France.

Congenital disorders of glycosylation (CDG) are rare inborn diseases of glycan component of N-glycosylated proteins. We report here the case of a 28-year-old patient with CDG syndrome type Ia, who presented with a deep venous thrombosis in the left suro-popliteal vein with no known triggers or antecedents. The patient was treated with rivaroxaban for six months. Read More

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http://dx.doi.org/10.1684/abc.2018.1324DOI Listing
April 2018
7 Reads

Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6.

Thromb Haemost 2018 May 21;118(5):939-941. Epub 2018 Mar 21.

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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http://dx.doi.org/10.1055/s-0038-1637721DOI Listing
May 2018
5 Reads

Correction: Recurrent mutations in a hotspot associate with venous thrombosis without apparent antithrombin deficiency.

Oncotarget 2018 Feb 16;9(13):11428. Epub 2018 Feb 16.

Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

[This corrects the article DOI: 10.18632/oncotarget.21365. Read More

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http://dx.doi.org/10.18632/oncotarget.24519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834269PMC
February 2018
16 Reads

Neonatal Purpura Fulminans, a rare genetic disorder due to protein C deficiency: A case report.

J Pak Med Assoc 2018 Mar;68(3):463-465

The Aga Khan University Hospital.

Neonatal Purpura Fulminans is a rare and fatal disorder associated with perivascular haemorrhage and disseminated intravascular coagulation. Early clinical recognition, timely investigation and treatment is utmost important. A 6 days old baby boy was brought to emergency with blackish ulcers all over the body. Read More

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March 2018
6 Reads

Acute Kidney Injury in a Case of Purpura Fulminans Developing Secondary to Antithrombin 3 Deficiency.

J Nippon Med Sch 2018 ;85(1):56-59

Department of Hematology, Namık Kemal University, School of Medicine.

Purpura fulminans associated with antithrombin 3 (AT 3) deficiency is very rare in adults and neonates. It can be categorized into three principal forms - neonatal, idiopathic and acute infectious. Purpura fulminans has been reported to cause cardiac, pulmonary and renal damage in rare cases. Read More

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http://dx.doi.org/10.1272/jnms.2018_85-9DOI Listing
August 2018
2 Reads

Efficacy of Oral Factor Xa Inhibitor for Venous Thromboembolism in a Patient with Antithrombin Deficiency.

Intern Med 2018 Jul 9;57(14):2025-2028. Epub 2018 Mar 9.

Division of Cardiology, Gunma Prefectural Cardiovascular Center, Japan.

A 19-year-old man was referred due to sudden onset of right foot pain and chest discomfort. Contrast-enhanced computed tomography revealed massive thrombi in the right pulmonary artery and femoral vein. The patient's father had experienced multiple recurrences of venous thromboembolism (VTE) and was diagnosed with inherited antithrombin deficiency by a genetic examination. Read More

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http://dx.doi.org/10.2169/internalmedicine.0483-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6096030PMC
July 2018
35 Reads

Thrombophilia testing in children: What and when should be tested?

Thromb Res 2018 04 21;164:75-78. Epub 2018 Feb 21.

The Israel National Hemophilia Centre, Sheba Medical Centre, Tel-Hashomer, The Sackler Medical School, Tel Aviv University, Israel.

Venous thrombosis (VTE) in children is gaining increased awareness and apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of inherited thrombophilic risk factors (IT), such as protein C-, protein S- and antithrombin deficiency, mutations of factor 5 (F5: rs6025) and factor 2 (F2: rs1799963), even more pronounced when combined IT were involved. Although we have learned more about the pathophysiology of VTE with the increased discovery of IT evidence is still lacking as to whether IT influence the clinical outcome in pediatric VTE. It still remains controversial as to whether children with VTE or offspring from thrombosis-prone families benefit from IT screening. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00493848183020
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http://dx.doi.org/10.1016/j.thromres.2018.02.136DOI Listing
April 2018
12 Reads

Asymptomatic Isolated Calf Deep Vein Thrombosis: Does It Worsen after Varicose Vein Surgery?

Ann Vasc Dis 2017 Dec;10(4):364-370

The Vein & Vascular Center, Aisei Hospital, Tokyo, Japan.

In our varicose vein center, on a trial basis, among the patients with asymptomatic calf deep vein thrombosis (CDVT) we carefully selected the patients for varicose vein surgery using the requirements as follows; 1) the patients had varicose veins with incompetent saphenous veins, 2) sequential examination including DUS confirmed stability and clinical insignificance of asymptomatic CDVT, 3) the patients do not have any risk factors for DVT such as a coagulation profile disorder (antithrombin deficiency, protein C deficiency, protein S deficiency, or antiphospholipid syndrome) or malignancies, 4) surgery is possible under local anesthesia alone, and 5) the patients can understand the concept of asymptomatic CDVT and undergo the surgery on their own will and informed consent. The patients who fulfilled these conditions underwent the varicose vein surgery. Twenty-eight patients with 30 limbs with varicose veins had asymptomatic CDVT, found by preoperative duplex ultrasonography (DUS). Read More

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http://dx.doi.org/10.3400/avd.oa.17-00104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835441PMC
December 2017
4 Reads

Portomesenteric vein thrombosis following laparoscopic sleeve gastrectomy: are underlying haematological disorders the culprit?

BMJ Case Rep 2018 Feb 23;2018. Epub 2018 Feb 23.

NYU Langone Hospital - Brooklyn, Brooklyn, New York, USA.

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http://dx.doi.org/10.1136/bcr-2017-223937DOI Listing
February 2018
6 Reads

Risk of Venous Thrombosis in Antithrombin Deficiency: A Systematic Review and Bayesian Meta-analysis.

Semin Thromb Hemost 2018 Jun 16;44(4):315-326. Epub 2018 Feb 16.

Department of Hematology, University of Groningen, UMC Groningen, Groningen, The Netherlands.

Antithrombin deficiency is a strong risk factor for venous thromboembolism (VTE), but the absolute risk of the first and recurrent VTE is unclear. The objective of this paper is to establish the absolute risks of the first and recurrent VTE and mortality in individuals with antithrombin deficiency. The databases Embase, Medline Ovid, Web of Science, the Cochrane Library, and Google Scholar were systematically searched for case-control and cohort studies. Read More

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http://dx.doi.org/10.1055/s-0038-1625983DOI Listing
June 2018
4 Reads

Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review.

Blood Rev 2018 Jul 20;32(4):272-279. Epub 2018 Apr 20.

University of Occidentale Brittany, EA 3878 GETBO, Brest, France; Department of Internal Medicine and Pneumology, Hospital de la Cavale Blanche, Brest, France.

Direct oral anticoagulants (DOACs) are indicated in the treatment and prevention of venous thromboembolism (VTE). However, the use of DOACs in unusual VTE, including cerebral venous thrombosis (CVT) and splanchnic venous thrombosis (SVT), and in patients with biological thrombophilia including minor thrombophilia (Factor V Leiden and prothrombin G20210A), major innate thrombophilia (protein C and S deficiency, and antithrombin) and major acquired thrombophilia (antiphospholipid syndrome [APS]), remains controversial due to the paucity of available data. There are some reports of DOACs use in the initial treatment or long-term maintenance of patients with either CVT or SVT, but their efficacy remains unclear. Read More

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http://dx.doi.org/10.1016/j.blre.2018.01.002DOI Listing
July 2018
64 Reads

Rivaroxaban for the treatment of venous thromboembolism in patients with nephrotic syndrome and low AT-III: A pilot study.

Exp Ther Med 2018 Jan 8;15(1):739-744. Epub 2017 Nov 8.

National Clinical Research Center of Kidney Disease, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210016, P.R. China.

The anticoagulation effect of heparin requires adequate serum antithrombin (AT)-III levels. Rivaroxaban, however, exhibits its anticoagulation effects independent of AT-III. The aim of the present study was to evaluate the efficacy and safety of rivaroxaban as a treatment for venous thromboembolism in patients with AT-III deficiency due to nephrotic syndrome. Read More

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http://dx.doi.org/10.3892/etm.2017.5471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772665PMC
January 2018
5 Reads

Activated Factor X-Based versus Thrombin-Based Antithrombin Testing in Thrombophilia Workup in the DOAC Era.

Thromb Haemost 2018 02 29;118(2):381-387. Epub 2018 Jan 29.

Institute of Experimental Haematology and Transfusion Medicine, University Hospital Bonn, Bonn, Germany.

Antithrombin (AT) activity tests are used for diagnosing hereditary AT deficiency, a main genetic determinant of thrombophilia. They are either based on inhibition of thrombin (FIIa) or activated factor X (FXa). FXa-based assays have been suggested to be preferable to FIIa-based assays due to their higher sensitivity for certain AT deficiency causing mutations. Read More

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http://dx.doi.org/10.1160/TH17-08-0568DOI Listing
February 2018
33 Reads