Literature DB >> 27913455

Inherited thrombophilia: a double-edged sword.

Saskia Middeldorp1.   

Abstract

Inherited thrombophilia is a blood coagulation disorder that increases the risk for venous thromboembolism (VTE). During the last decades, the practice of testing has evolved from testing selected populations, leading to high perceived risks, to broad testing for various conditions that included VTE, arterial thrombosis, and pregnancy complications. Because results of such tests usually do not guide treatment decisions, not testing patients with VTE for inherited thrombophilia is on the "Choosing Wisely" list endorsed by multiple specialty societies, including ASH. Inherited thrombophilia can be regarded a double-edged sword, as despite the rationale not to test, it is still being performed frequently. Another way of seeing inherited thrombophilia as a double-edged sword lies in its 2-sided association with reproduction, both in men and in women. Current areas of research are whether women with inherited thrombophilia and pregnancy complications benefit from anticoagulant therapy with regard to improving the chance of a successful pregnancy. Potential effects of inherited thrombophilia, most notably factor V Leiden, on improved embryo implantation in women and sperm counts in men are intriguing, but are currently poorly understood.
© 2016 by The American Society of Hematology. All rights reserved.

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Year:  2016        PMID: 27913455      PMCID: PMC6142488          DOI: 10.1182/asheducation-2016.1.1

Source DB:  PubMed          Journal:  Hematology Am Soc Hematol Educ Program        ISSN: 1520-4383


  80 in total

1.  Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A.

Authors:  Willem M Lijfering; Saskia Middeldorp; Nic J G M Veeger; Karly Hamulyák; Martin H Prins; Harry R Büller; Jan van der Meer
Journal:  Circulation       Date:  2010-04-05       Impact factor: 29.690

2.  Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V.

Authors:  J Voorberg; J Roelse; R Koopman; H Büller; F Berends; J W ten Cate; K Mertens; J A van Mourik
Journal:  Lancet       Date:  1994-06-18       Impact factor: 79.321

3.  Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis.

Authors:  B Zöller; B Dahlbäck
Journal:  Lancet       Date:  1994-06-18       Impact factor: 79.321

4.  A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism.

Authors:  S Middeldorp; J R Meinardi; M M Koopman; E C van Pampus; K Hamulyák; J van Der Meer; M H Prins; H R Büller
Journal:  Ann Intern Med       Date:  2001-09-04       Impact factor: 25.391

5.  High levels of factor IX increase the risk of venous thrombosis.

Authors:  A van Hylckama Vlieg; I K van der Linden; R M Bertina; F R Rosendaal
Journal:  Blood       Date:  2000-06-15       Impact factor: 22.113

6.  Low-molecular-weight heparin and recurrent placenta-mediated pregnancy complications: a meta-analysis of individual patient data from randomised controlled trials.

Authors:  Marc A Rodger; Jean-Christophe Gris; Johanna I P de Vries; Ida Martinelli; Évelyne Rey; Ekkehard Schleussner; Saskia Middeldorp; Risto Kaaja; Nicole J Langlois; Timothy Ramsay; Ranjeeta Mallick; Shannon M Bates; Carolien N H Abheiden; Annalisa Perna; David Petroff; Paulien de Jong; Marion E van Hoorn; P Dick Bezemer; Alain D Mayhew
Journal:  Lancet       Date:  2016-10-06       Impact factor: 79.321

Review 7.  Thrombophilia in pregnancy: a systematic review.

Authors:  L Robertson; O Wu; P Langhorne; S Twaddle; P Clark; G D O Lowe; I D Walker; M Greaves; I Brenkel; L Regan; I A Greer
Journal:  Br J Haematol       Date:  2006-01       Impact factor: 6.998

8.  Testing for inherited thrombophilia does not reduce the recurrence of venous thrombosis.

Authors:  M Coppens; J H Reijnders; S Middeldorp; C J M Doggen; F R Rosendaal
Journal:  J Thromb Haemost       Date:  2008-06-06       Impact factor: 5.824

Review 9.  Antithrombotic therapy for pregnancy loss.

Authors:  Paulien G de Jong; Mariëtte Goddijn; Saskia Middeldorp
Journal:  Hum Reprod Update       Date:  2013-06-13       Impact factor: 15.610

Review 10.  The psychological impact of testing for thrombophilia: a systematic review.

Authors:  D M Cohn; F Vansenne; A A Kaptein; C A J M De Borgie; S Middeldorp
Journal:  J Thromb Haemost       Date:  2008-07-01       Impact factor: 5.824

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  17 in total

1.  Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Authors:  Eun-Ju Lee; Daniel J Dykas; Andrew D Leavitt; Rodney M Camire; Eduard Ebberink; Pablo García de Frutos; Kavitha Gnanasambandan; Sean X Gu; James A Huntington; Steven R Lentz; Koen Mertens; Christopher R Parish; Alireza R Rezaie; Peter P Sayeski; Caroline Cromwell; Noffar Bar; Stephanie Halene; Natalia Neparidze; Terri L Parker; Adrienne J Burns; Anne Dumont; Xiaopan Yao; Cassius Iyad Ochoa Chaar; Jean M Connors; Allen E Bale; Alfred Ian Lee
Journal:  Blood Adv       Date:  2017-06-29

Review 2.  Preventing venous thromboembolism during pregnancy and postpartum: crossing the threshold.

Authors:  Leslie Skeith
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

Review 3.  Thrombosis in children: Which test to whom, when and how much necessary?

Authors:  Tiraje Celkan; Gürcan Dikme
Journal:  Turk Pediatri Ars       Date:  2018-03-01

4.  Evolutionary insights into coagulation factor IX Padua and other high-specific-activity variants.

Authors:  Benjamin J Samelson-Jones; Jonathan D Finn; Leslie J Raffini; Elizabeth P Merricks; Rodney M Camire; Timothy C Nichols; Valder R Arruda
Journal:  Blood Adv       Date:  2021-03-09

5.  Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation.

Authors:  Louisa Goumidi; Florian Thibord; Kerri L Wiggins; Ruifang Li-Gao; Mickael R Brown; Astrid van Hylckama Vlieg; Joan-Carles Souto; José-Manuel Soria; Manal Ibrahim-Kosta; Noémie Saut; Delphine Daian; Robert Olaso; Philippe Amouyel; Stéphanie Debette; Anne Boland; Pascal Bailly; Alanna C Morrison; Denis O Mook-Kanamori; Jean-François Deleuze; Andrew Johnson; Paul S de Vries; Maria Sabater-Lleal; Jacques Chiaroni; Nicholas L Smith; Frits R Rosendaal; Daniel I Chasman; David-Alexandre Trégouët; Pierre-Emmanuel Morange
Journal:  Blood       Date:  2021-04-29       Impact factor: 25.476

6.  Incidence and risk factors for venous thromboembolism in patients with pretreated advanced pancreatic carcinoma.

Authors:  Shunsuke Kondo; Mitsuhito Sasaki; Hiroko Hosoi; Yasunari Sakamoto; Chigusa Morizane; Hideki Ueno; Takuji Okusaka
Journal:  Oncotarget       Date:  2018-03-30

7.  Concepts and Controversies in Haemostasis and Thrombosis Associated with Liver Disease: Proceedings of the 7th International Coagulation in Liver Disease Conference.

Authors:  N M Intagliata; C K Argo; J G Stine; T Lisman; S H Caldwell; F Violi
Journal:  Thromb Haemost       Date:  2018-07-30       Impact factor: 5.249

8.  Consensus on the investigation of thrombophilia in women and clinical management.

Authors:  Claudia Mac Donald Bley Nascimento; Andréa Maria Novaes Machado; João Carlos de Campos Guerra; Eduardo Zlotnik; Dirceu Hamilton Cordeiro Campêlo; Paulo Kauffman; Hilton Waksman; Nelson Wolosker; Sérgio Podgaec; Nelson Hamerschlak
Journal:  Einstein (Sao Paulo)       Date:  2019-08-19

Review 9.  Risk factors of venous thrombo-embolism during cytomegalovirus infection in immunocompetent individuals. A systematic review.

Authors:  Manuela Ceccarelli; Emmanuele Venanzi Rullo; Giuseppe Nunnari
Journal:  Eur J Clin Microbiol Infect Dis       Date:  2018-01-18       Impact factor: 5.103

Review 10.  Thrombophilia screening revisited: an issue of personalized medicine.

Authors:  Giuseppe Colucci; Dimitrios A Tsakiris
Journal:  J Thromb Thrombolysis       Date:  2020-05       Impact factor: 2.300

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