Literature DB >> 29207759

Combined Thrombophilia in a Young Male Presenting as Life Threatening Pulmonary Embolism.

Akshyaya Pradhan1, Ayush Shukla2, Mili Jain3, Anupam Mehrotra4, Rishi Sethi5.   

Abstract

Combined hereditary thrombophilia is an uncommon entity associated with higher risk of early onset thrombosis. We report a case of 39-year-old male with combined deficiency of natural anticoagulants (protein C, S and anti thrombin) along with hyper homocystenemia and factor V Leiden mutation, presenting with life threatening bilateral pulmonary embolism. The clinical implications of combined thrombophilia are also discussed.

Entities:  

Keywords:  Anti thrombin; Fibrinolysis; Protein C; Protein S

Year:  2017        PMID: 29207759      PMCID: PMC5713781          DOI: 10.7860/JCDR/2017/27336.10582

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  10 in total

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Journal:  Mol Genet Metab       Date:  2000 Sep-Oct       Impact factor: 4.797

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Authors:  Saskia Middeldorp; Marcel Levi
Journal:  Semin Thromb Hemost       Date:  2007-09       Impact factor: 4.180

3.  Clinical guidelines for testing for heritable thrombophilia.

Authors:  Trevor Baglin; Elaine Gray; Mike Greaves; Beverley J Hunt; David Keeling; Sam Machin; Ian Mackie; Mike Makris; Tim Nokes; David Perry; R C Tait; Isobel Walker; Henry Watson
Journal:  Br J Haematol       Date:  2010-01-28       Impact factor: 6.998

4.  Combined factor V Leiden and prothrombin genotyping in patients presenting with thromboembolic episodes.

Authors:  J A Friedline; E Ahmad; D Garcia; D Blue; N Ceniza; J C Mattson; D Crisan
Journal:  Arch Pathol Lab Med       Date:  2001-01       Impact factor: 5.534

5.  Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia.

Authors:  Klaus Laczika; Irene Martha Lang; Peter Quehenberger; Christine Mannhalter; Manfred Muhm; Walter Klepetko; Paul Alexander Kyrle
Journal:  Chest       Date:  2002-01       Impact factor: 9.410

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Authors:  I Pabinger; C Y Vossen; J Lang; J Conard; M C García-Dabrio; W Miesbach; C Legnani; P Svensson; A Kaider; F R Rosendaal
Journal:  J Thromb Haemost       Date:  2012-02       Impact factor: 5.824

Review 7.  Risk assessment for recurrent venous thrombosis.

Authors:  Paul Alexander Kyrle; Frits R Rosendaal; Sabine Eichinger
Journal:  Lancet       Date:  2010-12-03       Impact factor: 79.321

Review 8.  Risk of venous thromboembolism in relatives of symptomatic probands with thrombophilia: a systematic review.

Authors:  Nicole J Langlois; Philip S Wells
Journal:  Thromb Haemost       Date:  2003-07       Impact factor: 5.249

Review 9.  Genetics of venous thrombosis.

Authors:  F R Rosendaal; P H Reitsma
Journal:  J Thromb Haemost       Date:  2009-07       Impact factor: 5.824

10.  The utility of thrombophilia testing.

Authors:  Massimo Franchini
Journal:  Clin Chem Lab Med       Date:  2014-04       Impact factor: 3.694

  10 in total
  1 in total

1.  Three-factorial Genetic Thrombophilia with Recurrent Thrombotic Events in a Saudi Patient: A Case Report.

Authors:  Osama A Al Sultan; Eman A Al Ibrahim
Journal:  Saudi J Med Med Sci       Date:  2020-08-20
  1 in total

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