scholarly journals Impact of thrombophilia and waist circumference on the risk of venousthromboembolism

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
T B Kondratieva ◽  
L V Popova ◽  
T V Khlevchuk ◽  
M Z Kanevskaya ◽  
M B Aksenova ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Waist Circumference ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V ◽  
C677t Polymorphism ◽  
Mthfr C677t Polymorphism ◽  
Inherited Thrombophilia ◽  
Pai 1

Abstract Background Venous thromboembolism (VTE), which includes deep vein thrombosis (DVT) and pulmonary embolism (PE) represents a major health problem. In the general population, the absolute risk of any kind of VTE is 0.1%–0.2% per year, and it increases with age. VTE is an important and preventable cause of morbidity and mortality, with almost a third of survivors experiencing long term effects. Obesity is well-known risk factor of VTE. The extent of the effects of obesity on VTE depends not only on total body fat, but also on the distribution of adipose tissue (e.g., central obesity) and the interplay among risk factors for VTE, such as genetic mutations, and other risk factors. Thrombophilia, venous thromboembolism, obesity, waist circumference Purpose The aim of this study is to investigate the impact of waist circumference on the risk of venous thromboembolism Methodology The study involved 68 patients with VTE (33 females and 34 males, mean age 56.8 years ±15.3) and 84 patients without VTE (38 males and 46 females, 44.4 years±18.6). From 2015 to 2017, data have been collected from records of patients admitted to department of internal medicine. All subjects were recruited to the study during their stay in the hospital. The reasons for hospitalization were: acute event of DVT or PE for the main group, the absence of acute event or history of VTE for the control group. DVT was diagnosed by ultrasonic Doppler examination, and PE was confirmed by intravenous radiocontrast computed tomography. Anthropometric measures were performed with subjects wearing short-sleeved garments and no shoes; waist circumference was measured in centimeters at the umbilical line. For all patients genetic testing for inherited thrombophilia – Factor V Leiden G1691A, Prothrombin G20210A, MTHFR C677T polymorphism, PAI-1 (SERPIN1) 4G/5G polymorphism – was performed by real-time PCR technique. Results Factor V Leiden G1691A increase the risk of VTE in 2.11 (CI: 1.79–2.48), p=0.049, prothrombin G20210A in 3.21 (CI: 1.66–6.211), p=0.049. MTHFR C677T polymorphism, PAI-1 (SERPIN1) 4G/5G polymorphism also increase the risk of VTE, but it was no significant. Study have shown that waist circumference >80 cm increase the risk of VTE in 3.19 (CI: 1.35–7.58), p=0.019. Combination of inherited thrombophilia (Factor V Leiden G1691A, Prothrombin G20210A, MTHFR C677T polymorphism, PAI-1 (SERPIN1) 4G/5G polymorphism) and waist circumference >80 cm increase the risk of VTE in 3.51 (CI: 1.76–7.04), p<0.001. Conclusion Previous results of our work indicate influence of waist circumference >80 cm on the risk of VTE, especially risk of thrombosis is higher in patients with combination inherited thrombophilia and waist circumference >80 cm. FUNDunding Acknowledgement Type of funding sources: None.

Impact of Inherited Thrombophilia Factors On Thrombotic Risk in Patients with Newly Diagnosed BCR- Abl (-) Myeloproliferative Disorders; Finally a Role of MTHFR- C677T Polymorphism?

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 5065-5065 ◽  
Author(s):  
Emmanouil Papadakis ◽  
Valia Papageorgiou ◽  
Konstantinos Tsepanis ◽  
Dionysia Theocharidou ◽  
Vassilios K Papadopoulos ◽  
...  
Keyword(s):  
Platelet Count ◽  
Myeloproliferative Neoplasms ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
C677t Polymorphism ◽  
Thrombotic Risk ◽  
Mthfr C677t Polymorphism ◽  
Inherited Thrombophilia ◽  
The Impact

Abstract Abstract 5065 Introduction: Myeloproliferative Neoplasms (MPN) are commonly associated with thrombotic complications, which constitute the major cause for morbidity and mortality in these patients. While the pathogenesis of Thrombosis is not yet fully elucidated, the impact of inherited thrombophilia on MPN patients is unknown. MTHFR-C677T polymorphism is a usual variation of the MTHFR gene and exerts weak, if any, prothrombotic role mainly through increased homocysteine levels. Up to date there are no specific guidelines for treatment of thrombotic events in MPN patients. Objectives: The purpose of our study is to determine the impact of inherited thrombophilia factors on thrombotic risk in patients with newly diagnosed BCR- abl (-) myeloproliferative neoplasms. We also tried to assess the role of the MTHFR- C677T polymorphism in thrombotic risk in our MPN patients. Material and Methods: Our study population consisted of 68 patients diagnosed with BCR- abl (-) myeloproliferative neoplasms in the Hematology Department of our Hospital during the period 2005– 2008. Diagnosis was set according to the World Health Organization and Updated European Clinical and Pathological criteria for the Diagnosis, Clasification and Staging of the Philadelphia chromosome (-) chronic myeloproliferative disorders. Age, Sex, Platelet count, serum homocysteine levels, presence of Jak-2 mutation, together with genetic polymorphisms of Factor V-Leiden and FII- G121120A prothrombin mutations, and MTHFR- C677T polymorphism were assessed. Among our patients, whose median age was 65 years (range 21– 83), 40 were male and 28 female. 41 patients were diagnosed with essential thrombocythemia (ET), 22 with Polycythemia Vera (PV), 3 with essential myelofibrosis and 2 with Unclassified Chronic bcr- abl (-) MPN. Statistical analysis was conducted with SPSS 20. 0. At first a monovariate statistical model was used with significant level set at p= 0. 05. For the multivariable statistical analysis model we used all variables with p<0, 05 from the previous model and those mentioned at recent medical literature as significantly related with thrombotic risk. Results: From our patients, 31 suffered a thrombotic event (arterial or venous thrombosis, microvascular disorders). Regarding their thrombophilia profile patients were found to be: 4 carriers of the FVL mutation, 4 carriers of the FII- G121120A and 13 were carrying the MTHFR- C677T polymorphism. Moreover, 56 patients were tested for Jak-2V617F, and 42 of them were found to be positive (100% patients with P. V., 79% ET patients). We tried to define whether the following variables are high risk factors for thrombotic events in our population: Platelet count, serum homocystein levels, presence of Jak-2 mutation, Factor V-Leiden and FII- G121120A, mutations, and MTHFR- C677T. Surprisingly, the presence of MTHFR- C677T reached statistical significance on the monovariate analysis (p= 0. 001), while published data on general thrombosis population don't show any correlation of the MTHFR- C677T with thrombotic events. Jak-2 mutation was studied in a subgroup of patients, which didn't include patients with PV and was found to be statistically significant thrombosis risk factor in the monovariate analysis. Multiple regression analysis revealed MTHFR- C677T genetic polymorphism as independent risk factor concerning thrombotic events in patients with BCR- abl (-) MPNs (p= 0. 01, Exp (B)= 39. 227, 95%CI: 2. 41 –638. 547). The mean concentration of serum homocystein and the mean platelet count didn't show any statistically significant difference between patients carying MTHFR- C677T polymorphism and MTHFR- C677T negative patients. So serum homocystein levels and platelet count were not found to be confounding factors. In addition the co- existence of MTHFR- C677T with either G121120A or FVL mutations was detected in 4 patients, and all of them suffered from thrombotic events. Conclusions: Our study is the first to demonstrate a prothrombotic role of MTHFR- C677T polymorphism in a MPN population. Thrombophilia studies are needed in MPN patients in order to better assess the thrombotic risk for the patients but foremost to properly tailor anticoagulant treatment after a thrombotic episode. Disclosures: No relevant conflicts of interest to declare.

Risk Factors in Venous Thromboembolism

2001 ◽  
Vol 86 (07) ◽  
pp. 395-403 ◽  
Author(s):  
Ida Martinelli
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Nucleotide Substitutions ◽  
Inherited Thrombophilia ◽  
G20210a Mutation ◽  
Increased Risk

SummaryVenous thromboembolism is a serious disorder because of its potential complications, such as pulmonary embolism and the post-thrombotic syndrome. Inherited determinants of venous thromboembolism are only in part known, but in the past decades considerable progress has been made in the understanding of risk factors for the disease and their clinical impact. In particular, the development of molecular biology techniques and the increasing interest in their application, allowed an identification of two causes of inherited thrombophilia, i.e., factor V Leiden and the prothrombin G20210A mutation. Their recent discovery provided a new approach for improving the knowledge of inherited thrombophilia. In contrast to deficiencies of the naturally occurring anticoagulant proteins antithrombin, protein C and protein S, these two mutations cannot be considered true genetic defects, since they are nucleotide substitutions resulting in a more efficient coagulation process. Since they are rather common in the general populations of Caucasian descent and are associated with a moderate increased risk of venous thromboembolism, the effect of the interaction between inherited and environmental risk factors for venous thromboembolism has become an even greater field of interest. Prevention of first events and recurrences of venous thromboembolism can be optimized only through a knowledge of the main risk factors, their effect, and their interaction with environmental factors.

scholarly journals Frequency of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-1 5G/4G polymorphism in patients with venous thromboembolism: Croatian case control study

2010 ◽  
pp. 229-235 ◽  
Author(s):  
Zrinka Alfirevic ◽  
Ana-Maria Simundic ◽  
Nora Nikolac ◽  
Nikola Sobocan ◽  
Igor Alfirevic ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Case Control Study ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Case Control ◽  
Factor V ◽  
Factor Ii ◽  
Pai 1 ◽  
Control Study

Basal high-sensitivity-C-reactive protein levels in patients with spontaneous venous thromboembolism

2005 ◽  
Vol 93 (03) ◽  
pp. 488-493 ◽  
Author(s):  
Rainer Vormittag ◽  
Thomas Vukovich ◽  
Verena Schönauer ◽  
Stephan Lehr ◽  
Erich Minar ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Statistical Significance ◽  
Factor V Leiden ◽  
High Sensitivity ◽  
Prothrombin G20210a ◽  
Factor V ◽  
C Reactive Protein ◽  
Reactive Protein ◽  
Hs Crp

SummaryThe role of C-reactive protein (CRP) in venous thromboembolism (VTE) is still under discussion because of controversial results in the literature. Conflicting data may have partly been due to bias by exogenous factors altering CRP levels. We investigated CRP concentrations in patients with spontaneous VTE applying a study design that allowed the measurement of basal high sensitivity (hs)-CRP levels. Patients with a history of deep vein thrombosis (DVT, n=117) and pulmonary embolism (PE, n=97) were compared to healthy individuals (n=104). Hs-CRP levels (mg/dl) were significantly higher in patients (n=214, median/interquartile range: 0.171/0.082–0.366) than in controls (0.099/0.053–0.245, p=0.001). The unadjusted odds ratio (OR) for VTE per 1 mg/dl increase of CRP was 2.8 [95% confidence interval (CI): 1.1–6.8, p=0.03]. This association remained significant after adjustment for factor V Leiden, prothrombin G20210A and factor VIII activity above 230% (OR = 2.9, 95% CI [1.1–7.5]), but became remarkably attenuated and lost its statistical significance after adjustment for BMI alone (OR = 1.7 [0.7–4.0]). CRP was also not independently associated with VTE in subgroups of patients (those with DVT without symptomatic PE, those with PE and patients without established risk factor) in multiple regression analysis. In summary, we observed significantly higher basal hs-CRP levels in patients with spontaneous VTE compared to healthy controls. This association was independent of hereditary and laboratory risk factors for VTE, but lost its significance after adjustment for BMI. Increased basal CRP levels do not appear to represent an independent risk factor for VTE.

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

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.

Risk of Pregnancy-Associated Venous Thromboembolism in Women with a History of Prior Thrombosis.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1493-1493 ◽  
Author(s):  
Andrea Gerhardt ◽  
Rudiger E. Scharf ◽  
Rainer B. Zotz
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Gene Mutation ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Previous Episode ◽  
Recurrent Venous Thromboembolism ◽  
History Of ◽  
Heparin Prophylaxis

Abstract Background: Previous estimates of the rate of recurrent venous thromboembolism (VTE) during pregnancy in women with a history of VTE have vary between 0 and 13%. Therefore, the decision to administer or withhold heparin - especially in the antepartum period - has been discussed controversial. In a recent study by Brill-Edwards et al. (N Engl J Med2000;343:1439–44), no recurrences of VTE occurred in women (n=44) who had a previous episode of thrombosis that was associated with a temporary risk factor and who also had no evidence of thrombophilia. Based on these results, antepartum heparin prophylaxis is not routinely recommended in women without thrombophilia whose previous episode of thrombosis was associated with a temporary risk factor (ACCP guidelines 2004). The objective of our study was to evaluate the risk of recurrent pregnancy-associated thrombosis in women with a history of VTE. Materials and Methods: We retrospectively studied 198 women with at least one pregnancy (275 pregnancies in total) after a one previous episode of VTE. Sixty-three women (81 pregnancies) were excluded from the analysis because of antepartum heparin prophylaxis. Results: In the subgroup of women without heparin prophylaxis (n=135), 15 (7.7%) thromboembolic events occurred antepartum in 194 pregnancies. Further subgroup analysis, stratified for the nature of first VTE, gave the following number of antepartum VTE per number of pregnancies: 2 VTE/19 pregnancies (10.5%) in 14 women (first VTE: immobilization), 4 VTE/33 pregnancies (12.1%) in 24 women (first VTE: surgery), 5 VTE/69 pregnancies (7.2%) in 46 women (first VTE: oral contraception), 2 VTE/58 pregnancies (3.4%) in 40 women (first VTE: pregnancy), 2 VTE/15 pregnancies (13%) in 11 women (first VTE: idiopathic). Nine of the 15 women with VTE (7/13 women with first VTE triggered by temporary risk factor; 2/2 women with first idiopathic VTE) had a heterozygous factor V Leiden G1691A or prothrombin G20210A gene mutation. In the postpartum period, 16 VTE in 194 pregnancies occurred after live birth in the 135 women without heparin prophylaxis. Nine of these 16 women had a heterozygous FVL or prothrombin G20210A gene mutation. In Conclusion, the risk of recurrent antepartum VTE was similar in women with and without factor V Leiden G1691A or the prothrombin G20210A gene mutation and did not differ between women with first VTE triggered by a transient risk factor or an idiopathic first VTE. In addition to recommended postpartum heparin prophylaxis, our data support the need for a routine antepartum prophylaxis in women without thrombophilia whose previous episode of thrombosis was associated with a temporary risk factor.

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