Prothrombin G20210A mutation, and not factor V Leiden mutation, is a risk factor for cerebral venous thrombosis in Brazilian patients

Objective: To evaluate the association between the Factor V Leiden (FV R506Q) and prothrombin gene (FII G20210A) mutations and deep venous thrombosis (DVT) in young people. Methods: Blood samples were drawn from 199 subjects: 100 healthy controls and 99 unselected patients, with an objectively documented first episode of DVT under 40 years old. DNA analysis was performed using the polymerase chain reaction. Results: The mean age in the patient cohort was 27 years (range 16–40) and 68 (68.7%) were women. Patient prevalences were 20.6% and 10.1% for FV R506Q and FII G20210A, respectively. In the control group, carrier frequencies were 2% and 5%, respectively. We found an increased overall relative risk of DVT with statistical significance for FV R506Q carriers (OR: 12.8; 95% CI: 2.9–56.7; P < 0.001), but not for FII G20210A mutation (OR: 2.1; 95% CI: 0.7–6.5; P = 0.19). Conclusions: Our results suggest a possible increase in DVT risk for the young G20210A allele carriers, which can be more expressed in the presence of a circumstantial risk factor. There is extremely strong evidence that the Factor V Leiden mutation is an important risk factor in the development of a first episode of DVT in young people.

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The Association Between Parameters of Erythrocytes Morphology and Thrombophilia-Related Mutations

Reviews on Recent Clinical Trials ◽

10.2174/1574887116666211123092603 ◽

2021 ◽

Vol 16 ◽

Author(s):

Ozlem Oz ◽

Ataman Gonel

Keyword(s):

Factor V Leiden ◽

Mthfr C677t ◽

Prothrombin G20210a ◽

Factor V ◽

Cross Sectional ◽

Factor V Leiden Mutation ◽

Erythrocyte Morphology ◽

Mthfr A1298c ◽

G20210a Mutation ◽

History Of

Background: Alterations in erythrocyte morphology parameters have been identified and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes are abundant in thrombus content. Their hemoglobin density and differences in the ratio of macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history of thrombosis. Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters and thrombophilia genetic parameters. Method: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of thrombosis were included in the study. %MIC, %MAC, %HPO, %HPR and all hemogram parameters were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time-PCR. Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in 58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29% of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood cell (RBC) and Hct values were higher in Factor 13 mutant group; the Hgb and Htc values were higher in the MTHFR C677T mutant group. Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history of thrombosis.

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The Factor V Leiden Mutation and the Prothrombin G20210A Mutation Was not Found in Japanese Patients with Pulmonary Thromboembolism

Thrombosis and Haemostasis ◽

10.1055/s-0037-1614913 ◽

1999 ◽

Vol 82 (12) ◽

pp. 1769-1769 ◽

Cited By ~ 14

Author(s):

M. Hara ◽

A. Takada ◽

A. Ro

Keyword(s):

Pulmonary Thromboembolism ◽

Factor V Leiden ◽

Japanese Patients ◽

Prothrombin G20210a ◽

Factor V ◽

Factor V Leiden Mutation ◽

G20210a Mutation

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Cerebral venous thrombosis due to homozygous factor V Leiden mutation

Neurology India ◽

10.4103/0028-3886.48796 ◽

2009 ◽

Vol 57 (1) ◽

pp. 91

Author(s):

M Thomas ◽

B George ◽

J Mammen ◽

S Aaron ◽

M Alexander

Keyword(s):

Venous Thrombosis ◽

Cerebral Venous Thrombosis ◽

Factor V Leiden ◽

Factor V ◽

Factor V Leiden Mutation

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The relationship of a Prothrombin G20210A mutation or a factor V Leiden mutation and on-aspirin platelet (re-)activity

Pregnancy Hypertension ◽

10.1016/j.preghy.2020.01.008 ◽

2020 ◽

Vol 19 ◽

pp. 127-130

Author(s):

Jeske J.K. van Diemen ◽

Jeske M. Bij de Weg ◽

Arda Arduç ◽

Olivier Veraart ◽

David Mager ◽

...

Keyword(s):

Factor V Leiden ◽

Prothrombin G20210a ◽

Factor V ◽

Factor V Leiden Mutation ◽

G20210a Mutation ◽

Relationship Of ◽

The Relationship

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Thrombotic risk during oral contraceptive use and pregnancy in women with factor V Leiden or prothrombin mutation: a rational approach to contraception

Blood ◽

10.1182/blood-2011-03-345678 ◽

2011 ◽

Vol 118 (8) ◽

pp. 2055-2061 ◽

Cited By ~ 48

Author(s):

Elizabeth F. W. van Vlijmen ◽

Nic J. G. M. Veeger ◽

Saskia Middeldorp ◽

Karly Hamulyák ◽

Martin H. Prins ◽

...

Keyword(s):

Risk Factors ◽

Oral Contraceptive ◽

Factor V Leiden ◽

Informed Choice ◽

Rational Approach ◽

Prothrombin G20210a ◽

Factor V ◽

Factor V Leiden Mutation ◽

Thrombotic Risk ◽

G20210a Mutation

AbstractCurrent guidelines discourage combined oral contraceptive (COC) use in women with hereditary thrombophilic defects. However, qualifying all hereditary thrombophilic defects as similarly strong risk factors might be questioned. Recent studies indicate the risk of venous thromboembolism (VTE) of a factor V Leiden mutation as considerably lower than a deficiency of protein C, protein S, or antithrombin. In a retrospective family cohort, the VTE risk during COC use and pregnancy (including postpartum) was assessed in 798 female relatives with or without a heterozygous, double heterozygous, or homozygous factor V Leiden or prothrombin G20210A mutation. Overall, absolute VTE risk in women with no, single, or combined defects was 0.13 (95% confidence interval 0.08-0.21), 0.35 (0.22-0.53), and 0.94 (0.47-1.67) per 100 person-years, while these were 0.19 (0.07-0.41), 0.49 (0.18-1.07), and 0.86 (0.10-3.11) during COC use, and 0.73 (0.30-1.51), 1.97 (0.94-3.63), and 7.65 (3.08-15.76) during pregnancy. COC use and pregnancy were independent risk factors for VTE, with highest risk during pregnancy postpartum, as demonstrated by adjusted hazard ratios of 16.0 (8.0-32.2) versus 2.2 (1.1-4.0) during COC use. Rather than strictly contraindicating COC use, we advocate that detailed counseling on all contraceptive options, including COCs, addressing the associated risks of both VTE and unintended pregnancy, enabling these women to make an informed choice.

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Prothrombin G20210A Mutation, but Not Factor V Leiden, Is a Risk Factor in Patients with Persistent Foramen ovale and Otherwise Unexplained Cerebral Ischemia

Cerebrovascular Diseases ◽

10.1159/000070120 ◽

2003 ◽

Vol 16 (1) ◽

pp. 83-87 ◽

Cited By ~ 34

Author(s):

C. Lichy ◽

K.H. Reuner ◽

F. Buggle ◽

F. Litfin ◽

H. Rickmann ◽

...

Keyword(s):

Risk Factor ◽

Cerebral Ischemia ◽

Factor V Leiden ◽

Prothrombin G20210a ◽

Factor V ◽

Foramen Ovale ◽

G20210a Mutation ◽

Persistent Foramen Ovale

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Thrombophilic polymorphisms – factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T – in Tunisian patients with cerebral venous thrombosis

Journal of Clinical Neuroscience ◽

10.1016/j.jocn.2011.11.029 ◽

2012 ◽

Vol 19 (9) ◽

pp. 1326-1327 ◽

Cited By ~ 7

Author(s):

Olfa Ben Salem-Berrabah ◽

Nejiba Fekih-Mrissa ◽

Brahim N’Siri ◽

Abdelmajid Ben Hamida ◽

Amel Benammar-Elgaaied ◽

...

Keyword(s):

Venous Thrombosis ◽

Cerebral Venous Thrombosis ◽

Factor V Leiden ◽

Mthfr C677t ◽

Prothrombin G20210a ◽

Factor V ◽

Tunisian Patients

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A Reduced Sensitivity for Activated Protein C in the Absence of Factor V Leiden Increases the Risk of Venous Thrombosis

Blood ◽

10.1182/blood.v93.4.1271 ◽

1999 ◽

Vol 93 (4) ◽

pp. 1271-1276 ◽

Cited By ~ 202

Author(s):

Marieke C.H. de Visser ◽

Frits R. Rosendaal ◽

Rogier M. Bertina

Keyword(s):

Risk Factor ◽

Confidence Interval ◽

Venous Thrombosis ◽

Protein C ◽

Activated Protein C ◽

Factor V Leiden ◽

Factor V ◽

Factor V Leiden Mutation ◽

Apc Resistance ◽

Increased Risk

Abstract Activated protein C (APC) resistance caused by the factor V Leiden mutation is associated with an increased risk of venous thrombosis. We investigated whether a reduced response to APC, not due to the factor V point mutation, is also a risk factor for venous thrombosis. For this analysis, we used the Leiden Thrombophilia Study (LETS), a case-control study for venous thrombosis including 474 patients with a first deep-vein thrombosis and 474 age- and sex-matched controls. All carriers of the factor V Leiden mutation were excluded. A dose-response relationship was observed between the sensitivity for APC and the risk of thrombosis: the lower the normalized APC sensitivity ratio, the higher the associated risk. The risk for the lowest quartile of normalized APC-SR (<0.92), which included 16.5% of the healthy controls, compared with the highest quartile (normalized APC-SR > 1.05) was greater than fourfold increased (OR = 4.4; 95% confidence interval, 2.9 to 6.6). We adjusted for VIII:C levels, which appeared to affect our APC resistance test. The adjusted (age, sex, FVIII:C) odds ratio for the lowest quartile was 2.5 (95% confidence interval, 1.5 to 4.2). So, after adjustment for factor VIII levels, a reduced response to APC remained a risk factor. Our results show that a reduced sensitivity for APC, not caused by the factor V Leiden mutation, is a risk factor for venous thrombosis.

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