Prognostic and predisposing risk factors for perinatal pathology in women with various forms of hyperhomocysteinemia

This article shows that folate therapy being carried out since the dispensary registration of women does not prevent the formation of neural tube defects. The determinationof prognostic significance and significance of predisposing risk factors allows predicting the type of hyperhomocysteinemia and its risks. It has been revealed that in case of the congenital form of hyperhomocysteinemia there is a combination with such forms of thrombophilia as the G1691A mutation of the factor V gene (factor V Leiden), the G20210A mutation of the prothrombin gene, PAI-1 gene mutation (5G > 4G). Thus, if congenital hyperhomocysteinemia is diagnosed or may be prognosed, the markers of genetic thrombophiliae should bedetected and the hemostatic system should be investigated. Considering the early formation of defects, the correction, must begin since a pregravid stage, taking into account the detected combinations with changes in the hemostatic system

Download Full-text

The G1691A Mutation of the Factor V Gene (Factor V Leiden) and the G20210A Mutation of the Prothrombin Gene as Risk Factors in Thrombotic Microangiopathies

Clinical and Applied Thrombosis/Hemostasis ◽

10.1177/1076029607311778 ◽

2009 ◽

Vol 15 (3) ◽

pp. 360-363 ◽

Cited By ~ 2

Author(s):

Christoph Sucker ◽

Christine Kurschat ◽

Gerd R. Hetzel ◽

Bernd Grabensee ◽

Beate Maruhn-Debowski ◽

...

Keyword(s):

Risk Factors ◽

Factor V Leiden ◽

Factor V ◽

Thrombotic Microangiopathies ◽

G20210a Mutation ◽

Factor V Gene ◽

Prothrombin Gene ◽

V Gene

Download Full-text

THROMBOPHILIC RISK FACTORS IN PATIENTS WITH CRANIAL AND SPINAL DURAL ARTERIOVENOUS FISTULAE

Neurosurgery ◽

10.1227/01.neu.0000325730.77263.7e ◽

2008 ◽

Vol 63 (4) ◽

pp. 693-699 ◽

Cited By ~ 18

Author(s):

Rüediger Gerlach ◽

Martina Boehm-Weigert ◽

Joachim Berkefeld ◽

Judith Duis ◽

Andreas Raabe ◽

...

Keyword(s):

Risk Factors ◽

Protein C ◽

Factor V Leiden ◽

Factor V ◽

Arteriovenous Fistulae ◽

Factor V Leiden Mutation ◽

Exact Test ◽

G20210a Mutation ◽

Cardiolipin Antibodies ◽

Prothrombin Gene

ABSTRACT OBJECTIVE Numerous studies have reported the technical aspects and results of surgical and/or endovascular treatment of cranial dural arteriovenous fistulae (cDAVF) and spinal dural arteriovenous fistulae (sDAVF). Only a few of them have addressed the question of thrombophilic conditions, which may be relevant as pathogenetic factors or can increase the risk for venous thromboembolic events. Therefore, the objective of this study is to compare thrombophilic risk factors in patients with cDAVF and sDAVF with no history of trauma. METHODS A total of 43 patients (25 with cDAVF and 18 with sDAVF) were included in this study. Blood samples were analyzed for G20210A mutation of the prothrombin gene and factor V Leiden mutation. In all patients, prothrombin time, international normalized ratio, fibrinogen, antithrombin, protein C and S activity, von Willebrand factor antigen, ristocetin cofactor activity, D-dimer, coagulation factor VIII activity, and tissue factor pathway inhibitor were determined. Screening was performed for the occurrence of lupus antiphospholipid and cardiolipin antibodies. RESULTS The prevalence of G20210A mutation of the prothrombin gene was significantly higher in patients with cDAVF (n = 6) compared with patients with sDAVF (n = 0; P < 0.05, Fisher's exact test). A factor V Leiden mutation was found in 3 patients with sDAVF and in 1 patient with cDAVF (P = 0.29, Fisher's exact test). No significant difference was found for other parameters, except for fibrinogen, but decreased protein C activity was more frequent in patients with cDAVF compared with patients with sDAVF (4 versus 1). Decreased protein S activity was encountered in 3 patients (2 with sDAVF and 1 with cDAVF). Cardiolipin antibodies were found in 2 patients with cDAVF but in none with sDAVF, whereas only 1 patient with sDAVF had lupus antiphospholipid antibodies. CONCLUSION In both groups of patients with dural arteriovenous fistulae, genetic thrombophilic abnormalities occurred in a higher percentage than in the general population. The differences of the genetic abnormalities may be involved in different pathophysiological mechanism(s) in the development of these distinct neurovascular entities.

Download Full-text

Factor V Leiden (G1691A) and Prothrombin Gene G20210A Mutations as Potential Risk Factors for Venous Thromboembolism after Total Hip or Total Knee Replacement Surgery

Thrombosis and Haemostasis ◽

10.1055/s-0037-1613052 ◽

2002 ◽

Vol 87 (04) ◽

pp. 580-585 ◽

Cited By ~ 59

Author(s):

G. Larson ◽

T. L. Lindahl ◽

C. Andersson ◽

L. Frison ◽

D. Gustafsson ◽

...

Keyword(s):

Risk Factors ◽

Venous Thromboembolism ◽

Factor V Leiden ◽

Composite Endpoint ◽

Factor V ◽

Factor V Leiden Mutation ◽

G20210a Mutation ◽

Symptomatic Pulmonary Embolism ◽

Increased Risk ◽

Prothrombin Gene

SummaryPatients (n = 1600) from 12 European countries, scheduled for elective orthopaedic hip or knee surgery, were screened for Factor V Leiden and prothrombin gene G20210A mutations, found in 5.5% and 2.9% of the populations, respectively. All patients underwent prophylactic treatment with one of four doses of melagatran and ximelagatran or dalteparin, starting pre-operatively. Bilateral ascending venography was performed on study day 8-11. The patients were subsequently treated according to local routines and followed for 4-6 weeks postoperatively. The composite endpoint of screened deep vein thrombosis (DVT) and symptomatic pulmonary embolism (PE) during prophylaxis did not differ significantly between patients with or without these mutations. Symptomatic venous thromboembolism (VTE) during prophylaxis and follow-up (1.9%) was significantly over-represented among patients with the prothrombin gene G20210A mutation (p = 0.0002). A tendency towards increased risk of VTE was found with the Factor V Leiden mutation (p = 0.09). PE were few, but significantly over-represented in both the Factor V Leiden and prothrombin gene G20210A mutated patients (p = 0.03 and p = 0.05, respectively). However, since 90% of the patients with these genetic risk factors will not suffer a VTE event, a general pre-operative genotyping is, in our opinion, of questionable value.

Download Full-text

Contraception-Related Deep Venous Thrombosis and Pulmonary Embolism in a 17-Year-Old Girl Heterozygous for Factor V Leiden, Prothrombin G20210A Mutation, MTHFR C677T and Homozygous for PAI-1 Mutation: Report of a Family with Multiple Genetic Risk Factors and Review of the Literature

Pathophysiology of Haemostasis and Thrombosis ◽

10.1159/000319051 ◽

2009 ◽

Vol 37 (1) ◽

pp. 24-29 ◽

Cited By ~ 5

Author(s):

Jasna Lenicek Krleza ◽

Gordana Jakovljevic ◽

Ana Bronic ◽

Désirée Coen Herak ◽

Aleksandra Bonevski ◽

...

Keyword(s):

Risk Factors ◽

Pulmonary Embolism ◽

Genetic Risk ◽

Factor V Leiden ◽

Mthfr C677t ◽

Prothrombin G20210a ◽

Factor V ◽

Review Of The Literature ◽

G20210a Mutation ◽

Pai 1

Download Full-text

Molecular Analysis of Factor V, Prothrombin and Methylenetetrahydrofolate Redutase in Thrombolic Patients

Blood ◽

10.1182/blood-2018-99-118777 ◽

2018 ◽

Vol 132 (Supplement 1) ◽

pp. 5050-5050

Author(s):

Aldair Sousa Paiva ◽

Hugo Diogenes De Oliveira Paiva ◽

Geraldo Barroso Cavalcanti ◽

Gioconda DR Leão ◽

Marcos Dias Leão ◽

...

Keyword(s):

Risk Factors ◽

Conflicts Of Interest ◽

Factor V Leiden ◽

Mthfr C677t ◽

Factor V ◽

Hereditary Risk ◽

Hemostatic System ◽

Pcr Rflp ◽

Prothrombin Gene ◽

Detection Of Mutations

Abstract Background: The study of thrombotic events requires knowledge of changes in the hemostatic system associated with multiple acquired and hereditary risk factors that suggest predisposition to thrombosis. The factor V or Leiden (G1621A), Prothrombin (G21210A) and Methylenetetrahydrofolate redutase-MTHFR (C677T) mutations are the major genetic risk factors for venous thrombosis. This study assessed the frequency of mutations of the Factor V (Leiden), Prothrombin and MTHFR in patients with thrombophilia from the DNA Center Laboratory, Natal - RN. Methods: The detection of mutations was made by PCR-RFLP followed by enzymatic restriction with HindIII (Leiden and Prothrombin) and HinfI (MTHFR). Results: From 69 selected patients, 52 (75.36%) were females and 35 (24.64%) were males. The frequency of genotypes for the Factor V were: 3 mutated homozygous (4.35%), 4 heterozygous (5.80%) and 62 normal homozygous (89.85%). Regarding the mutation in the Prothrombin gene it was observed in 65 normal homozygous patients (94.2%) and 4 (5.8%) heterozygous. The analysis of the mutation in the gene MTHFR showed 35 (50.7%) normal homozygous patients, 5 (7.2%) mutated homozygous patients and 29 heterozygotes patients (42.1%). Conclusions: Approximately 50% of patients tested had at least one type of genetic alteration combined. Based on data obtained it is indicated the investigation of three markers (Factor V, Prothrombin and MTHFR) thrombophilia-related, targeting the real impact of the molecular mutations in thrombosis and the conduct of treatment. Disclosures No relevant conflicts of interest to declare.

Download Full-text

Fibrinogen Saint-Germain II: Hypofibrinogenemia due to heterozygous γ N345S mutation

Thrombosis and Haemostasis ◽

10.1160/th05-05-0334 ◽

2005 ◽

Vol 94 (11) ◽

pp. 965-968 ◽

Cited By ~ 5

Author(s):

Philippe de Mazancourt ◽

Ghassan Maghzal ◽

Stephen Brennan ◽

Michael Mosesson ◽

Emmanuelle de Raucourt

Keyword(s):

Risk Factors ◽

Mass Spectrometry ◽

Pulmonary Embolism ◽

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Factor V Leiden ◽

Factor V ◽

Thromboembolic Risk ◽

G20210a Mutation ◽

Prothrombin Gene

SummaryWe have identified a novel heterozygous fibrinogen γ chain mutation, γN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. There was no evidence by mass spectrometry of plasma fibrinogen containing the mutant chain. The hypofibrinogenemia was discovered in a 26-year-old man who experienced extensive deep venous thrombosis of the left leg associated with pulmonary embolism. Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation. The hypofibrinogenemia may be contributory to the thrombophilic manifestations.

Download Full-text

Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population

Thrombosis Research ◽

10.1016/s0049-3848(02)00064-6 ◽

2002 ◽

Vol 106 (1) ◽

pp. 7-12 ◽

Cited By ~ 46

Author(s):

Yanhui Lu ◽

Yanfen Zhao ◽

Guozhang Liu ◽

Xiaoling Wang ◽

Zhihong Liu ◽

...

Keyword(s):

Risk Factors ◽

Chinese Population ◽

Pulmonary Thromboembolism ◽

Mthfr Gene ◽

Factor V ◽

G20210a Mutation ◽

C677t Mutation ◽

Factor V Gene ◽

Prothrombin Gene ◽

V Gene

Download Full-text

Prevalence of factor V Leiden (G1619A) and prothrombin gene (G20210A) mutation in Egyptian children with sickle cell disease

Comparative Clinical Pathology ◽

10.1007/s00580-012-1469-7 ◽

2012 ◽

Vol 22 (4) ◽

pp. 697-702

Author(s):

Mona Salah El-Din Hamdy ◽

Heba Mahmoud Gouda ◽

Iman Abdel-Mohsen Shaheen ◽

Mervat M. Khorshied ◽

Rania Hosny Tomerak

Keyword(s):

Sickle Cell Disease ◽

Sickle Cell ◽

Factor V Leiden ◽

Factor V ◽

Cell Disease ◽

G20210a Mutation ◽

Egyptian Children ◽

Prothrombin Gene

Download Full-text

Risk Determinants of Nonarteritic Ischemic Optic Neuropathy (NAION)

Blood ◽

10.1182/blood.v112.11.5349.5349 ◽

2008 ◽

Vol 112 (11) ◽

pp. 5349-5349 ◽

Cited By ~ 1

Author(s):

Rainer B. Zotz ◽

Clara Finger ◽

Andrea Gerhardt ◽

Rudiger E. Scharf

Keyword(s):

Risk Factors ◽

Significant Risk ◽

Factor V Leiden ◽

Ischemic Optic Neuropathy ◽

Factor V ◽

Healthy Controls ◽

Factor V Leiden Mutation ◽

Wide Range ◽

Risk Determinants ◽

Pai 1

Abstract Background: The aim of our present study was to examine the risk factors for atherosclerosis as well as thrombophilic risk factors for their role in patients with NAION in comparison to healthy controls. Methods: Prospective case-control-design with 109 Patients and 109 age-and sex-matched healthy controls. Results: Elevated levels of fibrinogen, FVIII:C, FIX:C, FXI:C, plasminogen activity, von Willebrand antigen (vWF:Ag) and activity, triglycerides, elevated erythrocyte sedimentation rate and decreased levels of high density lipoprotein (HDL) proved to be significant risk factors associated with NAION (OR 1.9 to 5.4; p<0.05). The combination of these risk determinants further increased the risk in a multiplicative or supra-multiplicative way (up to OR 16.5; p<0.0001). None of the examined genetic risk factors (factor V Leiden mutation, Prothrombin mutation, platelet polymorphisms KOZAK and VNTR of glycoprotein 1bα, Hpa-1 polymorphism of GPIIb-IIIa, C807T polymorphism of GPIa/IIa, 4G/5G polymorphism of PAI-1 and C667T mutation of MTHFR gene) was significantly associated with the disease. However, when the HPA-1b allele, GPIa807T allele or the PAI-1 polymorphism were combined with increased levels of fibrinogen or vWF:Ag, a significant interaction with a supra-multiplicative increase in risk could be demonstrated. Conclusions: In this first comprehensive analysis of a wide range of risk determinants of atherosclerosis and thrombophilia in NAION patients, several risk factors could be identified and quantified. Risk factors of arterial thrombosis appear to interact with risk factors of inflammatory atherosclerosis triggering NAION.

Download Full-text