scholarly journals Evaluation of pai-1 polymorphisms in central and peripheral thromboembolies

2021 ◽  
Vol 38 (2) ◽  
pp. 167-171
Author(s):  
Özge Arıcı DÜZ ◽  
Oktay OLMUŞÇELİK ◽  
Ali İhsan GEMİCİ ◽  
Özlem SAATÇİ SANCAKTEPE
Keyword(s):  
Risk Factors ◽  
Methylenetetrahydrofolate Reductase ◽  
Vascular System ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Genetic Mutations ◽  
Factor V ◽  
Significant Difference ◽  
Medium Risk ◽  
Pai 1

Thromboembolism is a clinical finding that occurs due to thrombus; formed in the vascular system and has various etiological factors. It can be classified as central and peripheral thromboembolism. Our objective in this study is to explore genetic risk factors in central and peripheral thromboembolism and reveal the differences. 342 thromboembolism patients were retrospectively included to the study between January 2016 and December 2019. Demographic characteristics, risk factors for thromboembolism and genetic mutations in central and peripheral thromboembolism groups were overviewed. The genetic mutations evaluated in patients were Factor V Leiden G1691A, Factor V HR1299R, Factor II (Prothrombin) G20210A, MTHFR (Methylenetetrahydrofolate reductase) C677T, MTHFR A1298C, PAI 4G/5G. Within the scope of the study, genetic analyzes of 106 patients were reached and included in the study. Seventy-two central thromboembolism (69.8%), 34 (31.2%) peripheral thromboembolisms were detected. Sixty-three of the central thromboembolisms were from arterial and nine were from venous origin. There was no significant difference between age, gender and risk factors of central thromboembolism and peripheral thromboembolism patients (p˃0.05), but smoking was more common in central thromboembolism patients (p: 0.041). 4G/5G polymorphism was observed more frequently in patients with central thromboembolism (p: 0.039). Thromboembolism is a multifactorial disease, PAI-1 4G/5G polymorphism is a medium risk factor for thromboembolism. We conclude that PAI-1 4G/5G polymorphism is more frequent in central thromboembolism than peripheral thromboembolism and its evaluation can give more information about the thromboembolic risk analyze.

Hereditary Thrombophilic Risk Factors and Venous Thromboembolism in Istanbul, Turkey: The Role in Different Clinical Manifestations of Venous Thromboembolism

2008 ◽  
Vol 14 (2) ◽  
pp. 168-173 ◽  
Author(s):  
Gulfer Okumus ◽  
Esen Kiyan ◽  
Orhan Arseven ◽  
Levent Tabak ◽  
Reyhan Diz-Kucukkaya ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Significant Difference ◽  
Deep Vein

The aim of this study was to investigate the hereditary thrombophilic risk factors in patients with venous thromboembolism (VTE) and whether these risk factors play a different role in patients with isolated pulmonary embolism (PE) as compared with patients with deep vein thrombosis (DVT) and patients with PE + DVT. The protein C (PC), protein S, antithrombin activities, homocysteine levels, and factor V Leiden (FVL) G1691A and prothrombin G20210A mutations were evaluated in 191 patients with VTE and 191 controls. The prevalence of FVL and PC deficiency were higher in patients ( P = .003 and P = .02, respectively). There was no significant difference for the other risk factors. The combination of thrombophilic risk factors was significantly higher in patients with DVT + PE as compared with patients with isolated PE or DVT ( P = .04). In conclusion, the most important hereditary risk factors for VTE in this study were the FVL mutation and PC deficiency.

scholarly journals Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

2010 ◽  
Vol 17 (6) ◽  
pp. E87-E94 ◽  
Author(s):  
Elif Kupeli ◽  
Hasibe Verdi ◽  
Abdullah Simsek ◽  
Fatma Belgin Atac ◽  
Fusun Oner Eyuboglu
Keyword(s):  
Allele Frequency ◽  
Methylenetetrahydrofolate Reductase ◽  
Health Hazard ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Turkish Population ◽  
Factor V ◽  
G20210a Mutation ◽  
Significant Difference ◽  
Pai 1

Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. In all, 80 patients with VTE and 104 controls were included. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients ( P = .04) with allele frequency of 6.3% ( P = .01). Heterozygous PT G20210A mutation was also significantly higher among patients ( P = .001) with allele frequency of 6.9% ( P = .003). MTHFR 677TT genotype was significantly higher in patients ( P = .009) with allele frequency of 23.8% ( P = .005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies ( P > .05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population.

scholarly journals Frequency of Thrombophilia-Related Genetic Variations in Patients with Idiopathic Pulmonary Embolism in an Urban Emergency Department

2006 ◽  
Vol 52 (6) ◽  
pp. 1026-1032 ◽  
Author(s):  
Lori Kruse ◽  
Alice M Mitchell ◽  
Carlos A Camargo ◽  
Jackeline Hernandez ◽  
Jeffrey A Kline
Keyword(s):  
Risk Factors ◽  
Pulmonary Embolism ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Polymorphism Analysis ◽  
Sequence Variant ◽  
Factor V

Abstract Background: The frequency of the thrombophilic genetic variants factor V Leiden (FVL) G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T in acutely symptomatic ambulatory patients with idiopathic pulmonary embolism (PE) has not been measured. Methods: This prospective case–control study included patients presenting to urban emergency departments (EDs) with chest pain or shortness of breath. Cases were classified as idiopathic PE (49 patients with PE, but without overt risk factors for thrombosis). Control groups included (a) patients with nonidiopathic PE (152 patients with PE and risk factors); (b) patients in whom PE was excluded (91 patients who had PE ruled out with a structured protocol, including follow-up); and (c) patients in whom PE was not suspected (193 patients without a workup for PE, who were free of PE on follow-up). Blood DNA extracts were analyzed by PCR and restriction fragment length polymorphism analysis for the FVL, prothrombin, and MTHFR sequence variations. Results: Either the FVL or prothrombin variant was found in 10% (95% confidence interval, 3%–22%) of patients with idiopathic PE compared with 13% (8%–20%) of nonidiopathic PE, 2% (5%–14%) of PE excluded, and 9% (5%–14%) of PE not suspected patients. Patients with idiopathic PE tended to have a higher frequency of homozygous MTHFR sequence variants, but mean (SD) plasma homocysteine concentrations were not increased [15.6 (5.4) μmol/L vs 12.8 (4.6) μmol/L for homozygous, and wild-type, respectively; P = 0.40]. Conclusions: The frequency of either the FVL or prothrombin sequence variant was not increased in idiopathic PE patients compared with nonidiopathic PE patients or patients who had PE excluded. These data suggest that genotyping to detect idiopathic PE would have limited clinical utility in the urban ED setting.

Thrombophilic Risk Factors in Patients with Central Retinal Vein Occlusion

2001 ◽  
Vol 86 (09) ◽  
pp. 722-726 ◽  
Author(s):  
Rossella Marcucci ◽  
Laura Bertini ◽  
Betti Giusti ◽  
Tamara Brunelli ◽  
Sandra Fedi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Retinal Vein Occlusion ◽  
Central Retinal Vein Occlusion ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Mthfr Polymorphism ◽  
Vein Occlusion ◽  
Pai 1 ◽  
Central Retinal Vein

SummaryFew and contrasting data are available on the prevalence of hemostatic risk factors in patients with central retinal vein occlusion (CRVO). Aim of this study was to investigate the metabolic and inherited risk factors for venous thrombosis in 100 CRVO patients (age: 59 yrs; range 18-77) and in 100 controls (age: 56 yrs; range 18-84). In patients homocysteine (Hcy) levels were significantly higher than in controls and were affected by the C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism (p <0.001). The prevalences of activated protein C resistance (APCR), factor V Leiden positivity, elevated PAI-1 and Lp(a) levels were significantly higher in patients with respect to controls. At multivariate analysis, only hyperhomocysteinemia (OR 11, 95% CI 3.6-36.2; p <0.0001) and elevated PAI-1 levels (OR 8.9, 95% CI 3.5-41.3; p <0.01), in addition to hypertension (OR 40.5, 95% CI 8.6-188.8; p <0.00001) and hypercholesterolemia (OR 3.1, 95% CI 1.6-20.5; p <0.05), were independent risk factors for CRVO. These data demonstrate a potential role of hemostatic risk factors in the pathophysiology of CRVO.

scholarly journals Genetic Mutations Pai-1 4G/4G and ACE D/D that Reduce Fibrinolysis are responsible for most Serious Pregnancy Complications and Abortions and are Best treated with S/C LMW Heparin and Aspirin

2021 ◽  
pp. 01-17
Author(s):  
A. Pierides FRCP ◽  
G. Solomou ◽  
A. Kakoura ◽  
G. Maos ◽  
D. Mavromoustakis ◽  
...  
Keyword(s):  
Pregnancy Complications ◽  
Factor V Leiden ◽  
Clinical Results ◽  
Prothrombin G20210a ◽  
Genetic Mutations ◽  
Factor V ◽  
Healthy Baby ◽  
Positive Factor ◽  
Pai 1 ◽  
In Pregnancy

Background: Abortions, stillbirths, PET and other serious pregnancy complications cause more than 3-4 million pregnancy failures annually worldwide. Hypofibrinolytic and thrombophilia mutations are responsible for a large number of these events. Methods: A study of 11 such genetic mutations (Table 5) in 26 Cypriot ladies after failed pregnancies from serious complications, stillbirths and abortions was carried out between 2006 and 2020. All 26 ladies had significant hypo fibrinolysis and thrombophilia mutations. Hypofibrinolytic mutation PAI-1 4G/4G, was the commonest (X2 p=0.0052) with 11 ladies, 9 of them also ACE D/D positive. Factor V Leiden was present in 5 ladies (X2 p=ns). Clinical results: After the diagnosis of hypo fibrinolysis ± thrombophilia, 19 of these 26 ladies proceeded with 1-2 more pregnancies using LMW s/c heparin and oral aspirin, all with healthy babies. The remaining 7 ladies were too stressed for another pregnancy. 12 ladies were referred after PET, 2 with stillbirths and 9 after caesareans with birthweights at 700, 900, 950, 1050+1080, 1200, 1250, 2050, 2080 and 2200g. One baby developed mental retardation. The 12th lady with PET at 20 weeks, was immediately treated with LMW s/c heparin and had a healthy baby at 32 weeks. The remaining 14 ladies had other earlier pregnancy complications, 9 of them ending as abortions. Three ladies had their pregnancies saved with an instant mutational study and therapy with LMW heparin, leading to healthy babies. Conclusion: Hypofrinolytic mutations PAI-1 4G/4G and ACE D/D are serious mutations leading to abortions and pregnancy complications and should always be taken seriously in pregnancy. Thrombophilia mutations Factor V Leiden, Factor VR2, prothrombin G20210A, and MTHFR also lead to complicated pregnancies but less frequently. LMW s/c heparin in pregnancies with such mutations saves lives. It would be ideal if these mutations were always studied prior to every first pregnancy. Keywords: Mutations PAI-1 4G/4G; ACE D/d In Pregnancy

Association of increased C-Reactive Protein and hypocomplementemia with risk factors for thrombosis in women who have susceptibility for poor gestational outcome; importance of preconceptional counseling

2021 ◽  
pp. 1-6
Author(s):  
Mehmet Sinan Beksac ◽  
Hanife Guler Donmez
Keyword(s):  
Risk Factors ◽  
Inflammatory Diseases ◽  
Factor V Leiden ◽  
Care Program ◽  
Prothrombin G20210a ◽  
Study Group ◽  
Factor V ◽  
C Reactive Protein ◽  
Mthfr Polymorphisms ◽  
Reactive Protein

This study aimed to investigate the association of increased C-Reactive Protein (CRP) and hypocomplementemia with risk factors for thrombosis such as Factor V Leiden (FVLP) and Prothrombin G20210A polymorphisms (PP), increased Activated Protein C Resistance (APCR) and decreased anti-thrombin III (ATIII) activity in women who have metabolic (MTHFR polymorphisms) and immunological risk factors (autoimmune antibody positivity, autoimmune disorders, and chronic inflammatory diseases). All patients (n= 197) were evaluated in terms of risk factors for thrombosis including FVLP, PP, increased APCR, and decreased ATIII activity as well as CRP and complement (C) 3 and C4 levels within a framework of preconceptional care program. Patients with high CRP levels together with hypocomplementemia were included to the study group (n= 13), while women with normal levels of CRP, C3, and C4 were accepted as controls (n= 184). Decreased ATIII activity was found to be statistically more frequent in the study group compared to controls (p= 0.036). There were no significant differences between the study and control groups in terms of the presence of FVLP, PP and increased APCR (p= 0.386, p= 0.462, p= 0.625, respectively). Decreased ATIII activity should be the concern of preconceptional and antenatal care programs in risky patients with increased CRP levels and hypocomplementemia in order to prevent placental inflammation related gestational complications.

scholarly journals Inherited Risk Factors of Thromboembolic Events in Patients with Primary Nephrotic Syndrome

Medicina ◽  
2020 ◽  
Vol 56 (5) ◽  
pp. 242 ◽  
Author(s):  
Gener Ismail ◽  
Bogdan Obrișcă ◽  
Roxana Jurubiță ◽  
Andreea Andronesi ◽  
Bogdan Sorohan ◽  
...  
Keyword(s):  
Risk Factors ◽  
Nephrotic Syndrome ◽  
Genetic Testing ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Thromboembolic Events ◽  
Factor V Leiden Mutation ◽  
Venous Thromboembolic Events ◽  
Inherited Risk

Background and objectives. Venous thromboembolic events (VTEs) are among the most important complications of nephrotic syndrome (NS). We conducted a study that aimed to determine the prevalence of inherited risk factors for VTE in NS and to identify which factors are independent predictors of VTE. Materials and Methods. Thirty-six consecutive patients with primary NS that underwent percutaneous kidney biopsy between January 2017 and December 2017 were enrolled in this retrospective, observational study. VTEs were the primary outcome. Baseline demographic and biochemical data were collected from medical records, and genetic testing was done for polymorphisms of Factor V, PAI, MTHFR, and prothrombin genes. Results. The incidence of VTE was 28%, and the median time to event was 3 months (IQR: 2–9). The prevalence of inherited risk factors was 14% for Factor V Leiden mutation, 5.6% for prothrombin G20210A, 44.5% for PAI, and 27.8% for each of the two polymorphisms of the MTHFR gene. On multivariate analysis, the presence of at least two mutations was independently associated with the risk of VTE (HR, 8.92; 95% confidence interval, CI: 1.001 to 79.58, p = 0,05). Conclusions. These findings suggest that genetic testing for inherited thrombophilia in NS could play an important role in detecting high-risk patients that warrant prophylactic anticoagulation.

scholarly journals Two common genetic thrombotic risk factors: Factor V Leiden and prothrombin G20210A in adult Turkish patients with thrombosis

2001 ◽  
Vol 67 (2) ◽  
pp. 107-111 ◽  
Author(s):  
A. Gurgey ◽  
I.C. Haznedaroglu ◽  
T. Egesel ◽  
Y. Buyukas?k ◽  
O.I. Ozcebe ◽  
...  
Keyword(s):  
Risk Factors ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Thrombotic Risk ◽  
Turkish Patients
Sign in / Sign up

Export Citation Format

Share Document