title: Factor V Leiden mutation carriership and venous thromboembolism in polycythemia vera and essential thrombocythemia.
abstract: Polycythemia Vera (PV) and Essential Thrombocythemia (ET) are chronic myeloproliferative disorders complicated by a high incidence of thrombotic complications. Extensive coagulation studies failed to demonstrate a consistent pattern of abnormalities associated with thrombosis. Recently, a poor anticoagulant response to activated protein C (APC), due to a mutation of factor V (FV Leiden), has been identified as the most frequent hereditary disorder associated with venous thrombophilia. We investigated in 304 patients with PV and ET whether the presence of FV Leiden could be a risk factor for thrombosis. FV Leiden was found in 14/304 patients (4.6%) and was associated with venous thromboembolism (VTE) occurred before and at diagnosis (5/27,16%, with a significant difference of prevalence in comparison of that observed in asymptomatic patients, 9/263, 3%, p = 0.003). Carriership of FV Leiden was associated with VTE relapse, with a prevalence of 3.6% in asymptomatic patients, 6.9% in patients with a single episode of VTE and 18.1% in patients with recurrent VTE. The prevalence of FV Leiden in patients with and without arterial thrombosis was similar (5/79, 6% and 9/211, 4%, respectively, p = 0.337). This study indicates that the prevalence of the FV Leiden mutation in patients with PV and ET is comparable with that observed in the general population. FV Leiden mutation is a risk factor for VTE before and at time of diagnosis and for VTE recurrences. Screening for FV Leiden may be considered to identify PV and ET patients at higher risk of recurrences.
authors.affiliation: Department of Hematology, S. Bortolo Hospital, Vicenza, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Ruggeri
authors.forename: Heinz
authors.initials: H
authors.lastname: Gisslinger
authors.forename: Alberto
authors.initials: A
authors.lastname: Tosetto
authors.forename: Claudia
authors.initials: C
authors.lastname: Rintelen
authors.forename: Christine
authors.initials: C
authors.lastname: Mannhalter
authors.forename: Ingrid
authors.initials: I
authors.lastname: Pabinger
authors.forename: Navide
authors.initials: N
authors.lastname: Heis
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Castaman
authors.forename: Edoardo
authors.initials: E
authors.lastname: Missiaglia
authors.forename: Klaus
authors.initials: K
authors.lastname: Lechner
authors.forename: Francesco
authors.initials: F
authors.lastname: Rodeghiero
mesh_terms: D020016:Activated Protein C Resistance / Q000453:epidemiology* / Q000235:genetics; D000925:Anticoagulants / Q000627:therapeutic use; D001317:Austria / Q000453:epidemiology; D002318:Cardiovascular Diseases / Q000453:epidemiology; D015331:Cohort Studies; D015897:Comorbidity; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011087:Polycythemia Vera / Q000150:complications / Q000453:epidemiology* / Q000235:genetics; D015995:Prevalence; D012008:Recurrence; D012307:Risk Factors; D013920:Thrombocythemia, Essential / Q000150:complications / Q000453:epidemiology* / Q000235:genetics; D019851:Thrombophilia / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D014859:Warfarin / Q000627:therapeutic use
chemical_list: D000925:Anticoagulants; C095381:factor V Leiden; D014859:Warfarin; D005165:Factor V