Literature DB >> 16475036

Thrombophilias--practical implications and testing caveats.

Stephan Moll1.   

Abstract

This review summarizes recent information about the major thrombophilic conditions, their clinical relevance, and practical aspects pertaining to testing for these thrombophilias, such as when to test and what assays are appropriate. Conditions covered include factor V Leiden, prothrombin 20210 mutation, proteins C and S, antithrombin, antiphospholipid antibodies, homocysteine, and methylene-tetrahydrofolate-reductase enzyme mutation. Additional comments focus on education of patients and educational resources for patients, such as the National Alliance for Thrombosis and Thrombophilia (www.nattinfo.org).

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Year:  2006        PMID: 16475036     DOI: 10.1007/s11239-006-5570-0

Source DB:  PubMed          Journal:  J Thromb Thrombolysis        ISSN: 0929-5305            Impact factor:   2.300


  43 in total

1.  MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis.

Authors:  Mariska Klerk; Petra Verhoef; Robert Clarke; Henk J Blom; Frans J Kok; Evert G Schouten
Journal:  JAMA       Date:  2002 Oct 23-30       Impact factor: 56.272

2.  INHERITED ANTITHROMBIN DEFICIENCY CAUSING THROMBOPHILIA.

Authors:  O EGEBERG
Journal:  Thromb Diath Haemorrh       Date:  1965-06-15

3.  Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation).

Authors:  Elizabeth A Varga; Stephan Moll
Journal:  Circulation       Date:  2004-07-20       Impact factor: 29.690

4.  Cardiology patient pages. Homocysteine and MTHFR mutations: relation to thrombosis and coronary artery disease.

Authors:  Elizabeth A Varga; Amy C Sturm; Caron P Misita; Stephan Moll
Journal:  Circulation       Date:  2005-05-17       Impact factor: 29.690

5.  Extended anticoagulation for prevention of recurrent venous thromboembolism in carriers of factor V Leiden--cost-effectiveness analysis.

Authors:  M Marchetti; A Pistorio; G Barosi
Journal:  Thromb Haemost       Date:  2000-11       Impact factor: 5.249

6.  Lowering homocysteine in patients with ischemic stroke to prevent recurrent stroke, myocardial infarction, and death: the Vitamin Intervention for Stroke Prevention (VISP) randomized controlled trial.

Authors:  James F Toole; M René Malinow; Lloyd E Chambless; J David Spence; L Creed Pettigrew; Virginia J Howard; Elizabeth G Sides; Chin-Hua Wang; Meir Stampfer
Journal:  JAMA       Date:  2004-02-04       Impact factor: 56.272

7.  Methylenetetrahydrofolate reductase polymorphism (C677T), hyperhomocysteinemia, and risk of ischemic cardiovascular disease and venous thromboembolism: prospective and case-control studies from the Copenhagen City Heart Study.

Authors:  Jeppe Frederiksen; Klaus Juul; Peer Grande; Gorm B Jensen; Torben V Schroeder; Anne Tybjaerg-Hansen; Børge G Nordestgaard
Journal:  Blood       Date:  2004-06-29       Impact factor: 22.113

8.  The clinical spectrum of heterozygous protein C deficiency in a large New England kindred.

Authors:  E G Bovill; K A Bauer; J D Dickerman; P Callas; B West
Journal:  Blood       Date:  1989-02-15       Impact factor: 22.113

9.  Common C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of venous thromboembolism: meta-analysis of 31 studies.

Authors:  J G Ray; D Shmorgun; W S Chan
Journal:  Pathophysiol Haemost Thromb       Date:  2002 Mar-Apr

10.  Prevalence of protein C deficiency in the healthy population.

Authors:  R C Tait; I D Walker; P H Reitsma; S I Islam; F McCall; S R Poort; J A Conkie; R M Bertina
Journal:  Thromb Haemost       Date:  1995-01       Impact factor: 5.249

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  7 in total

1.  Polymorphisms of methalenetetrahydrofolate reductase in recurrent pregnancy loss: an overview of systematic reviews and meta-analyses.

Authors:  Boran Du; Xiangjun Shi; Chenghong Yin; Xin Feng
Journal:  J Assist Reprod Genet       Date:  2019-06-28       Impact factor: 3.412

2.  Medical management of venous thromboembolism: what the interventional radiologist needs to know.

Authors:  Raj S Kasthuri; Nigel S Key
Journal:  Semin Intervent Radiol       Date:  2012-03       Impact factor: 1.513

Review 3.  Inherited and acquired risk factors for arterial ischemic stroke in childhood.

Authors:  Giuseppe Lippi; Massimo Franchini; Martina Montagnana; Gian Luca Salvagno; Giovanni Targher; Gian Cesare Guidi
Journal:  J Thromb Thrombolysis       Date:  2008-02-10       Impact factor: 2.300

4.  Factor V-Leiden Mutation: A Common Risk Factor for Venous Thrombosis among Lebanese Patients.

Authors:  Raghid Kreidy
Journal:  Thrombosis       Date:  2012-06-12

Review 5.  Inherited thrombophilia: key points for genetic counseling.

Authors:  Elizabeth Varga
Journal:  J Genet Couns       Date:  2007-05-01       Impact factor: 2.717

Review 6.  Inherited prothrombotic risk factors in children with first ischemic stroke.

Authors:  Renata Zadro; Désirée Coen Herak
Journal:  Biochem Med (Zagreb)       Date:  2012       Impact factor: 2.313

Review 7.  Influence of acquired and genetic risk factors on the prevention, management, and treatment of thromboembolic disease.

Authors:  Raghid Kreidy
Journal:  Int J Vasc Med       Date:  2014-06-26
  7 in total

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