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

2005 ◽  
Vol 94 (11) ◽  
pp. 965-968 ◽  
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.

scholarly journals Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium

2005 ◽  
Vol 62 (3) ◽  
pp. 201-205 ◽  
Author(s):  
Valentina Djordjevic ◽  
Ljiljana Rakicevic ◽  
Milos Spasic ◽  
Predrag Miljic ◽  
Danijela Mikovic ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
First Episode ◽  
Factor V ◽  
G20210a Mutation ◽  
Fv Leiden ◽  
Heterozygous Carriers

Background. Venous thrombosis is the most common cause of obstetric morbidity and mortality during pregnancy and puerperium. The incidence of pregnancy associated venous thrombosis varies from 1 in 1000 to 1 in 2000 deliveries. Factor V G1691A (FV Leiden), FII G20210A and MTHFR C677T mutations are the most common genetic risk factors for thromboembolism. The aim of this study was to establish the presence of these risk factors in a group of women with an episode of deep venous thrombosis during pregnancy or puerperium. Methods. The study was carried in a group of 45 women with the first episode of deep venous thrombosis during pregnancy or puerperium. The patients with antiphospholipid antibodies, antithrombin III, protein C or protein S deficiency, and autoimmune and malignant diseases were excluded from the study. FV Leiden, FII G20210A, and MTHFR C677T mutations were detected by polymerase chain reaction, followed by digestion with specific restriction enzymes. Results. Twenty heterozygous carriers of the FV Leiden mutation and one homozygous carrier were detected, which represents the frequencies of 44.4% and 2.2%, respectively. For the FII G20210A mutation, six heterozygous carriers were identified, giving the frequency of 13.3%. The MTHFR C677T mutation was observed in 31 patients (22 heterozygous and 9 homozygous carriers) which represents the frequencies of 48.9% and 20%, respectively. Conclusion. Our study suggested that the obligatory testing for FV Leiden and FII G20210A mutations was strongly recommended in women with history of venous thrombosis during pregnancy and puerperium. We found a slight effect of MTHFR 677T allele, but it should be considered in association with other risk factors.

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

Neurosurgery ◽  
2008 ◽  
Vol 63 (4) ◽  
pp. 693-699 ◽  
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.

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

2002 ◽  
Vol 87 (04) ◽  
pp. 580-585 ◽  
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.

scholarly journals 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

2009 ◽  
Vol 15 (3) ◽  
pp. 360-363 ◽  
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

Risk of recurrent venous thrombosis in patients with G20210A mutation in the prothrombin gene or factor V Leiden mutation

2006 ◽  
Vol 17 (1) ◽  
pp. 23-28 ◽  
Author(s):  
José Ramón González-Porras ◽  
Ramón García-Sanz ◽  
Ignacio Alberca ◽  
María Luz López ◽  
Ana Balanzategui ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
G20210a Mutation ◽  
Prothrombin Gene ◽  
Recurrent Venous Thrombosis

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

2012 ◽  
Vol 61 (5) ◽  
pp. 38-42
Author(s):  
Valentina Andreyevna Guryeva ◽  
Yana Mikhaylovna Kostkina
Keyword(s):  
Risk Factors ◽  
Prognostic Significance ◽  
Factor V Leiden ◽  
Factor V ◽  
Perinatal Pathology ◽  
Hemostatic System ◽  
G20210a Mutation ◽  
Factor V Gene ◽  
Prothrombin Gene ◽  
Pai 1

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

scholarly journals Minor Events and the Risk of Deep Venous Thrombosis

2000 ◽  
Vol 83 (03) ◽  
pp. 408-411 ◽  
Author(s):  
E. M. W. Eekhoff ◽  
J. P. Vandenbroucke ◽  
F. R. Rosendaal
Keyword(s):  
Risk Factors ◽  
Confidence Interval ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Odds Ratio ◽  
Factor V Leiden ◽  
Common Disease ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Synergy Index

SummaryBackground Deep venous thrombosis is a common disease, with genetic and acquired risk factors. Many patients have a history of minor events (short periods of immobilisation such as prolonged travel, short illness, minor surgery or injuries) before onset of venous thrombosis. However, the role of these minor events has received little formal study. Also, we do not know how minor events might interact with the presence of genetic prothrombotic defects (factor V Leiden mutation, factor II mutation, protein C, S and antithrombin deficiency). Patients and Methods On the basis of case-control data from a thrombosis service in the Netherlands, we added a follow-up period for a casecross-over analysis of minor events as risk factors, and a case-only analysis for the interaction with factor V Leiden. A total of 187 patients with first, objectively diagnosed venous thrombosis of the legs, aged 15–70, without underlying malignancies and without major acquired risk factors entered the study. For the analysis of minor events in the case-cross-over analysis, we used a matched odds ratio; in the caseonly analysis, we used the multiplicative synergy index. Results In 32.6% of the 187 patients with deep venous thrombosis who did not have major acquired risk factors, minor events were the only external risk factors. Minor events increased the risk of thrombosis about 3-fold, as estimated in the case-cross-over analysis (odds ratio 2.9, 95% confidence interval 1.5–5.4). The synergy index between minor events and factor V Leiden mutation in the case-only analysis was 0.7 (95% confidence interval 0.3–1.5). Therefore, persons with factor V Leiden mutation who experience a minor event will have an estimated risk increase of about 17-fold, which exceeds the sum of the individual risk factors. Conclusions Minor events are likely to play an important role in the development of deep venous thrombosis, especially in the presence of genetic prothrombotic conditions.

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