Factor V Leiden and hemophilia

Thrombosis Research
Massimo Franchini, Giuseppe Lippi

Abstract

Several inherited prothrombotic risk factors have been identified so far. Among them, the factor V (FV) Leiden mutation causes a reduced ability of activated protein C to inactivate activated FV and is the most frequent genetic predisposing factor for venous thromboembolism. However, the high prevalence of FV Leiden (up to 15%) in the Caucasian population suggests that this mutation might confer an evolutionary survival advantage. Indeed, there is mounting evidence about the role of FV Leiden in modulating the clinical phenotype of some physiological and pathological conditions, including hemophilia. The existing literature on the interaction between FV Leiden and hemophilia-related factor VIII or IX mutations is analyzed in this review focusing on the clinical effects and possible pathogenic mechanisms. In summary, current evidence suggests that this prothrombotic mutation may compensate for the low factor VIII or IX levels, resulting in more efficient thrombin generation and ensuing attenuation of clinical symptoms. On the other hand, the association of this prothrombotic mutation with other acquired or inherited thrombophilic factors might overcome the congenital bleeding tendency in hemophiliacs, thereby increasing the risk...Continue Reading

References

Dec 1, 1996·British Journal of Haematology·D C Rees
Dec 21, 2000·Haemophilia : the Official Journal of the World Federation of Hemophilia·R K PruthiD A Gastineau
Jan 3, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·K GhoshD Mohanty
Sep 6, 2001·Blood·J M JourneycakeG R Buchanan
Sep 14, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·F VianelloA Girolami
Feb 21, 2002·Blood·Carmen Escuriola EttingshausenUlrike Nowak-Göttl
May 16, 2002·Haemophilia : the Official Journal of the World Federation of Hemophilia·E F TizzanoM Baiget
Oct 24, 2002·Blood·Kenneth G Mann, Michael Kalafatis
Nov 2, 2002·Haemophilia : the Official Journal of the World Federation of Hemophilia·M GrünewaldM Griesshammer
Feb 26, 2003·Circulation·Brian S DonahueAlfred L George
Mar 5, 2003·Haemophilia : the Official Journal of the World Federation of Hemophilia·F AraújoL M Cunha-Ribeiro
Apr 8, 2003·Thrombosis Research·Rafeeq AhmedRenu Saxena
Jul 23, 2003·Journal of Thrombosis and Haemostasis : JTH·Z J FokaA Kotsis
Apr 22, 2004·Journal of Thrombosis and Haemostasis : JTH·V E PriceV S Blanchette
Jul 3, 2004·Haemophilia : the Official Journal of the World Federation of Hemophilia·Y DargaudC Negrier
Mar 8, 2005·Journal of Thrombosis and Haemostasis : JTH·M H A BosK Mertens
Jul 14, 2005·Haemophilia : the Official Journal of the World Federation of Hemophilia·C P Beltrán-MirandaM A Laffan
Oct 20, 2005·The Journal of Infectious Diseases·Thomas L BenfieldAnne Tybjaerg-Hansen
Dec 20, 2005·Journal of Thrombosis and Haemostasis : JTH·A SchlachtermanV R Arruda
Apr 1, 2006·Critical Reviews in Clinical Laboratory Sciences·Massimo FranchiniGiuseppe Lippi
Aug 1, 2007·Journal of Thrombosis and Haemostasis : JTH·H M van den BergK Fischer
Aug 10, 2007·British Journal of Haematology·Rolf Ljung
Sep 13, 2007·Thrombosis and Haemostasis·Kenneth SegersGerry A F Nicolaes
Feb 20, 2008·Internal and Emergency Medicine·Massimo Franchini, Pier Mannuccio Mannucci
Apr 9, 2008·Seminars in Thrombosis and Hemostasis·Giridhara Rao Jayandharan, Alok Srivastava
May 3, 2008·Haematologica·Massimo Franchini, Pier Mannuccio Mannucci
May 10, 2008·Journal of Thrombosis and Haemostasis : JTH·S SchulmanM Blombäck
Jun 10, 2008·Current Medicinal Chemistry·Pelle G Lindqvist, Björn Dahlbäck
Jul 16, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·J J López-JiménezA R Jaloma-Cruz

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Citations

Jan 16, 2014·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Halit OzkayaMustafa Kul
May 11, 2011·Thrombosis Journal·Iraklis TsangarisApostolos Armaganidis
Dec 1, 2010·Indian Journal of Urology : IJU : Journal of the Urological Society of India·Chandru P Sundaram, Alison C Keenan
Jan 26, 2016·Seminars in Hematology·Tine WyseureAnnette von Drygalski
Nov 3, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·L A ValentinoX Song
Sep 22, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·J H FoleyK E Brummel-Ziedins
Jun 15, 2013·Journal of Thrombosis and Haemostasis : JTH·M Escobar, S Sallah
May 14, 2014·Journal of Thrombosis and Haemostasis : JTH·A von DrygalskiL O Mosnier
Mar 13, 2014·Thrombosis Research·Björn Dahlbäck
Aug 16, 2014·PloS One·Annette von DrygalskiLaurent O Mosnier
Aug 27, 2016·American Journal of Hematology·Jan Hartmann, Stacy E Croteau
Sep 29, 2018·Journal of Thrombosis and Haemostasis : JTH·A D ShapiroS Nasr
Jun 21, 2017·Current Opinion in Hematology·Stéphanie G I PolderdijkJames A Huntington
Jun 21, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·U Wartiovaara-KauttoR Lassila
Sep 29, 2020·Thrombosis and Haemostasis·Karen AymonnierMarie Christine Bouton
Jul 27, 2018·Research and Practice in Thrombosis and Haemostasis·Daniel A Keesler, Veronica H Flood
Feb 27, 2021·Seminars in Thrombosis and Hemostasis·Aisling M RehillUNKNOWN iPATH Study Group
Dec 29, 2020·Journal of Thrombosis and Haemostasis : JTH·Stacy E CroteauAlan D Michelson
May 29, 2018·Pediatric Clinics of North America·Stacy E Croteau
Aug 10, 2020·Journal of Pediatric Hematology/oncology·Mei Ching GohRajat Bhattacharyya
Jul 30, 2021·British Journal of Haematology·Hannah Fassel, Catherine McGuinn
Dec 2, 2021·Pediatrics in Review·Omar Matuk-VillazonFernando F Corrales-Medina

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