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Borge G Nordestgaard - One of the best experts on this subject based on the ideXlab platform.
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risk of Venous thromboembolism and myocardial infarction associated with Factor V leiden and prothrombin mutations and blood type
Canadian Medical Association Journal, 2013Co-Authors: Birgitte F Sode, Kristine H Allin, Morten Dahl, Finn Gyntelberg, Borge G NordestgaardAbstract:Background: ABO blood type locus has been reported to be an important genetic determinant of Venous and arterial thrombosis in genome-wide association studies. We tested the hypothesis that ABO blood type alone and in combination with mutations in Factor V Leiden R506Q and prothrombin G20210A is associated with the risk of Venous thromboembolism and myocardial infarction in the general population. Methods: We used data from 2 Danish studies that followed members of the general public from 1977 through 2010. We obtained the genotype of 66 001 white participants for ABO blood type, Factor V Leiden R506Q and prothrombin G20210A. We calculated hazard ratios (HRs) and population attributable risk. Our main outcome measures were Venous thromboembolism and myocardial infarction. Results: The multiVariable adjusted HR for Venous thromboembolism was 1.4 (95% confidence interVal [CI] 1.3–1.5) for non-O blood type (V. O blood type). For the Factor V Leiden R506Q mutation, the adjusted HR was 2.2 (95% CI 2.0–2.5) for heterozygous participants and 7.0 (95%CI 4.8–10) for homozygous participants (V. participants without the mutation). For prothrombin G20210A, the adjusted HR was 1.5 (95%CI 1.2–1.9) for heterozygous participants and 11 (95% CI 2.8–44) for homozygous participants (V. participants without the mutation). When we combined ABO blood type and Factor V Leiden R506Q or prothrombin G20210A genotype, there was a stepwise increase in the risk of Venous thromboembolism (trend, p Interpretation: ABO blood type had an additiVe effect on the risk of Venous thromboembolism when combined with Factor V Leiden R506Q and prothrombin G20210A mutations; blood type was the most important risk Factor for Venous thromboembolism in the general population.
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Factor V leiden and the risk for Venous thromboembolism in the adult danish population
Annals of Internal Medicine, 2004Co-Authors: Klaus Juul, Anne Tybjaerghansen, Peter Schnohr, Borge G NordestgaardAbstract:In the adult Danish population, heterozygotes for the Factor V Leiden mutation had a hazard ratio of 3 for Venous thromboembolism relatiVe to noncarriers of the mutation. For homozygotes, the hazar...
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Factor V leiden relation to fertility
The Lancet, 2002Co-Authors: Klaus Juul, Anne Tybjaerghansen, Borge G NordestgaardAbstract:findings. They do, howeVer, bring into question the eVolutional importance of an early implantation adVantage. ObViously, improVed implantation in our study could haVe been balanced by abortions or miscarriages later in pregnancy. AlternatiVely, the conclusions of Gopel and colleagues could represent a type I error. Thus, their results are rendered non-significant if only one indiVidual changes status in the 2 2 table. Finally, the high preValence of Factor V Leiden in the general population may simply reflect that surViVal is not affected to any substantial extent by the mutation. This finding would be in accordance with those from preVious studies, in which risk of pulmonary embolism in carriers of Factor V Leiden is reported as much smaller than that of more benign deep Venous thromboses. Furthermore, risk of arterial thrombosis does not seem to be affected by Factor V Leiden, which lends support to the conclusion that it does not affect surViVal.
Giuseppe Leone - One of the best experts on this subject based on the ideXlab platform.
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preValence of Factor V leiden and the g20210a prothrombin gene mutation in inflammatory bowel disease
Blood Coagulation & Fibrinolysis, 2000Co-Authors: Alfredo Papa, V De Stefano, Antonio Gasbarrini, P Chiusolo, Rossella Cianci, I Casorelli, Katia Paciaroni, G Cammarota, Giuseppe Leone, G GasbarriniAbstract:A hypercoagulable state has been hypothesized as a contributing Factor in the pathogenesis of inflammatory bowel disease (IBD); moreoVer, such patients haVe an increased risk of thrombotic complications. The aim of the present paper was to study the preValence of the two most important causes of inherited thrombophilia: Factor V Leiden and the G20210A prothrombin-gene mutation in patients with Crohn's disease (CD) and ulceratiVe colitis (UC). Fifty-two patients affected by IBD (33 UC and 19 CD, 16 female and 36 male; mean age, 42 years) and 156 healthy controls (48 female and 108 male; mean age, 37 years) were studied. SeVen out of 52 patients (13%) had preVious thrombotic eVents. High molecular weight DNA was analysed for the presence of Factor V Leiden and the G20210A prothrombin-gene mutation. One out of 52 IBD patients (1.9%) and three out of 156 control subjects (1.9%) were heterozygous for Factor V Leiden. One IBD patient (1.9%) and four healthy controls (2.6%) were heterozygous for the prothrombin-gene mutation. The preValence of the two mutations was similar in patients and controls. In the subgroup of IBD patients with preVious thrombotic eVents, only one patient was heterozygous for the prothrombin-gene mutation. Factor V Leiden and the G20210A prothrombin-gene mutation do not seem to play a major role in the pathogenesis of IBD or be associated with an increased incidence of thrombotic complications, but with limited data.
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the risk of recurrent deep Venous thrombosis among heterozygous carriers of both Factor V leiden and the g20210a prothrombin mutation
The New England Journal of Medicine, 1999Co-Authors: V De Stefano, P M Mannucci, P Chiusolo, I Casorelli, Katia Paciaroni, Ida Martinelli, E Rossi, Giuseppe LeoneAbstract:Background Point mutations in the Factor V gene (Factor V Leiden) and the prothrombin gene (the substitution of A for G at position 20210) are the most common causes of inherited thrombophilia. Whether or not Factor V Leiden increases the risk of recurrent deep Venous thrombosis is controVersial, and there is no information on the risk of recurrence among carriers of both mutations. Methods We studied a retrospectiVe cohort of 624 patients who were referred for a first episode of deep Venous thrombosis. After excluding 212 patients with other inherited or acquired causes of thrombophilia, we compared 112 patients who were heterozygous carriers of Factor V Leiden with 17 patients who were heterozygous for both Factor V Leiden and the prothrombin mutation and 283 patients who had neither mutation. The relatiVe risk of recurrent deep Venous thrombosis was calculated with use of a proportional-hazards model. Results Patients who were heterozygous for Factor V Leiden alone had a risk of recurrent deep Venous t...
Paul M Ridker - One of the best experts on this subject based on the ideXlab platform.
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Factor V leiden mutation as a risk Factor for recurrent pregnancy loss
Annals of Internal Medicine, 1998Co-Authors: Paul M Ridker, Daniel T Price, Joseph P Miletich, Julie E Buring, Abraham A Ariyo, Joann E Manson, Joseph A HillAbstract:Background: Recurrent pregnancy loss may result from hypercoagulability. ObjectiVe: To determine whether women with Factor V Leiden mutation, a common inherited defect of coagulation, are at increa...
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Factor V leiden mutation and the risks for thromboembolic disease a clinical perspectiVe
Annals of Internal Medicine, 1997Co-Authors: Daniel T Price, Paul M RidkerAbstract:The Factor V Leiden mutation present in 4-6% of the US population makes the actiVated form of Factor V relatiVely resistant to degradation by actiVated protein C in turn producing resistance to actiVated protein C. Clinical studies haVe suggested that Factor V Leiden mutation increases the risk of Venous thrombosis during pregnancy and in oral contraceptiVe (OC) users but the benefit-to-risk ratio of screening for this mutation is unclear. This paper reViews English-language articles published in 1993-97 on resistance to actiVated protein C or the Factor V Leiden mutation with regard to laboratory diagnosis preValence risks for thromboembolic disease screening and management. Included were case-control studies prospectiVe cohort studies and case reports. The literature suggests that Factor V Leiden mutation is associated with 3- to 6-fold increases in risks for primary and recurrent Venous thromboembolism. In genetically affected persons this risk is substantially higher among those with co-existent predispositions for thrombosis including adVanced age OC use hyperhomocystinemia and deficiencies of proteins C and S. Any decisions about screening for Factor V Leiden must await clinical trials designed to eValuate the benefit-to-risk ratio of long-term anticoagulation in the secondary preVention of Venous thromboembolism in patients with resistance to actiVated protein C.
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ethnic distribution of Factor V leiden in 4047 men and women implications for Venous thromboembolism screening
JAMA, 1997Co-Authors: Paul M Ridker, Joseph P Miletich, Charles H Hennekens, Julie E BuringAbstract:ObjectiVe. —To estimate ethnic-specific preValence rates of Factor V Leiden, an inherited defect of hemostasis associated with risk of Venous thrombosis. Design. —SurVey of 4047 American men and women participating in the Physicians' Health Study (PHS) or in the Women's Health Study (WHS). All study participants were free of myocardial infarction, stroke, or Venous thrombosis. Main Outcome Measure. —PreValence ofG1691ALeiden mutation in the gene coding for coagulation Factor V was determined in the PHS group using polymerase chain reaction techniques and, in the WHS group, a second-generation actiVated protein C (APC)—resistance screening test with genetic confirmation of all borderline and low-Value results. Results. —In 2468 Caucasian Americans, carrier frequency of Factor V Leiden was 5.27% (95% confidence interVal [CI], 4.42%-6.22%). Carrier frequency was 2.21% in 407 Hispanic Americans, 1.23% in 650 African Americans, 0.45% in 442 Asian Americans, and 1.25% in 80 NatiVe Americans. Thus, preValence of Factor V Leiden was less among minority subjects (P=.001). Carrier frequencies were similar in Caucasian men and women (5.53% Vs 4.85% respectiVely,P=.5). Conclusion. —These data indicate that preValence of Factor V Leiden is greater among Caucasians than minority Americans. These data haVe implications for clinicians considering whether to screen for Factor V Leiden in high-risk groups such as those with prior Venous thromboses or coexistent defects of anticoagulation and women at risk for postpartum thrombosis or seeking oral contraceptiVes.
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Factor V leiden and risks of recurrent idiopathic Venous thromboembolism
Circulation, 1995Co-Authors: Paul M Ridker, Joseph P Miletich, Meir J Stampfer, Samuel Z Goldhaber, Klaus Lindpaintner, Charles H HennekensAbstract:Background Whether Leiden mutation in the gene coding for coagulation Factor V is associated with recurrent idiopathic Venous thromboembolism (VTE) is unknown, but such data are necessary to eValuate the merits of genetic screening in secondary preVention of thromboembolic disease. Methods and Results Among 14 916 apparently healthy men who proVided DNA samples and were followed in the Physicians’ Health Study through August 1994, 77 suffered an idiopathic VTE. These 77 men were followed for an additional aVerage period of 68.3 months, during which time 11 (14.3%) suffered a recurrent idiopathic VTE. Factor V Leiden status was assessed in these men, and incidence rates of recurrence were calculated by genotype. All recurrent eVents occurred after cessation of anticoagulation. SeVen recurrences occurred among 63 genetically unaffected subjects (11.1%; incidence rate, 1.82 per 100 person-years), while four occurred among those 14 heterozygous for Factor V Leiden (28.6%; incidence rate, 7.46 per 100 person-y...
Lucila Sandoval - One of the best experts on this subject based on the ideXlab platform.
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methylenetetrahydrofolate reductase c677t polymorphism and Factor V leiden Variant in mexican women with preeclampsia eclampsia
Blood Cells Molecules and Diseases, 2005Co-Authors: I P Davalos, M C Moran, Esperanza Martinezabundis, Manuel Gonzalezortiz, Silvia Esperanza Floresmartinez, V Machorro, Lucila SandovalAbstract:The etiology of preeclampsia is still a matter of controVersy. An association between hyperhomocysteinemia and preeclamptic patients has been described. A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with increased plasma homocysteine concentrations. In addition, the polymorphism of gene encoding for Factor V Leiden G1691A is associated with a prothrombotic state in heterozygous subjects. Both mutations in these thrombophilic proteins appear to haVe different preValence in the general population and in patients with preeclampsia/eclampsia (PE/E). We studied single nucleotide polymorphisms for MTHFR C677T and coagulation Factor V Leiden in 33 Mexican patients with PE/E as a genetic risk Factor for these diseases, comparing with a normotensiVe pregnant control group. The genotype and allele frequencies of MTHFR C677T and Factor V Leiden mutations between Mexican women with PE/E and healthy controls were not different. We conclude that these polymorphisms do not contribute in the etiology of PE/E as it has been reported in other populations.
Wassim Y. Almawi - One of the best experts on this subject based on the ideXlab platform.
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LiVedoid Vasculopathy associated with combined prothrombin G20210A and Factor V (Leiden) heterozygosity and MTHFR C677T homozygosity
Journal of Thrombosis and Thrombolysis, 2008Co-Authors: Noha A. Irani-hakime, Farid Stephan, Raghid Kreidy, Isabelle Jureidini, Wassim Y. AlmawiAbstract:LiVedoid Vasculopathy (LV) is an occlusiVe thrombotic disease of lower extremities. A 34-year-old woman presented with 4-year history of recurrent necrotic and painful lesions with Violaceous and purpuric border on both legs. Initial treatment with hydroxychloroquine, dapsone and prednisone were unsuccessful. Skin biopsy showed inflammatory infiltrate with epidermal necrosis. Prothrombin G20210A and Factor V-Leiden heterozygosity, and MTHFR C677T homozygosity with hyperhomocysteinemia were confirmed. LV diagnosis was made; acetylsalicylic acid, folic acid, Vitamin B12, and prednisone treatement resulted in complete healing. This is the first report on coexistence of prothrombin G20210A, Factor V-Leiden, and homozygous MTHFR C677T with hyperhomocysteinemia in LV.
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preValence of Factor V g1691a Factor V leiden and prothrombin g20210a gene mutations in a recurrent miscarriage population
American Journal of Hematology, 2002Co-Authors: Ramzi R Finan, Hala Tamim, Ghada Ameen, Huda E Sharida, Mooza Rashid, Wassim Y. AlmawiAbstract:Factor V G1691A (FV-Leiden) and prothrombin G20210A mutations are major inherited risk Factors for Venous thrombosis. Recently, it was suggested that both mutations, through stimulation of Venous and placental thrombosis eVents, were strongly associated with recurrent idiopathic miscarriages, although other studies disputed such a link. The aim of this study was to determine the preValence of prothrombin G20210A and Factor V G1691A (R506Q, FV-Leiden) mutations in women with recurrent idiopathic abortions and to recommend management for high-risk mutation carriers. One hundred ten women with two or more consecutiVe unexplained first-trimester miscarriages (mean age +/- SD, 32.3 +/- 5.3) were compared to 67 parous women with uncomplicated pregnancies (mean age +/- SD, 33.9 +/-7.3) (P = 0.134) from the same ethnic background. The presence or absence of the prothrombin G20210A and FV-Leiden mutations was assessed by PCR and RFLP analysis, using HindIII and MnlI digestion, respectiVely. In women with primary habitual abortion, 45 (40.91%) carried the FV-Leiden mutation, of whom 7 were in the homozygote and 38 were in the heterozygote states, and 15 (13.64%) carried the prothrombin G20210A mutation all as heterozygotes, compared to 16.42% and 2.99% carrier rates among controls, respectiVely, all of whom were heterozygote carriers. Of the other risk Factors analyzed, smoking (OR 1.76; 95% CI = 0.79-3.94) was more preValent in habitual aborters compared to controls. Both FV-Leiden and Factor II G20210A mutations are major inherited risk Factor associated with primary recurrent miscarriages. Women with a family or personal history of thrombosis should be screened before or early in the pregnancy for FV-Leiden and Factor II G20210A mutations.
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preValence of two thrombophilia predisposing mutations Factor V g1691a r506q leiden and prothrombin g20210a among healthy lebanese
Thrombosis and Haemostasis, 2002Co-Authors: Hala Tamim, Ramzi R Finan, Wassim Y. AlmawiAbstract:PreValence of Two Thrombophilia Predisposing Mutations: Factor V G1691A (R506Q; Leiden) and Prothrombin G20210A, among Healthy Lebanese -
