scholarly journals Coexistence of Factor V G1691A and Factor II G20210A Gene Mutations in a Thrombotic Family Is Associated with Recurrence and Early Onset of Venous Thrombosis

2001 ◽  
Vol 31 (2) ◽  
pp. 99-105 ◽  
Author(s):  
D. Gemmati ◽  
M.L. Serino ◽  
S. Moratelli ◽  
S. Tognazzo ◽  
A. Ongaro ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Early Onset ◽  
Gene Mutations ◽  
Factor V ◽  
Factor Ii ◽  
Factor V G1691a

Factor V G1691A Mutation and Factor II G20210A Variant in Children with Venous Thrombosis or Stroke. An International Database Update.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 4117-4117
Author(s):  
Ulrike Nowak-Gottl ◽  
Karin Kurnik ◽  
Marilyn Manco-Johnson ◽  
Guy Young
Keyword(s):  
Venous Thrombosis ◽  
Antithrombotic Therapy ◽  
Pediatric Patients ◽  
Vitamin K Antagonists ◽  
Disease Onset ◽  
Recurrent Event ◽  
Factor V ◽  
Recurrent Thrombosis ◽  
Factor Ii ◽  
Factor V G1691a

Abstract The present database pooling was performed to investigate the clinical phenotype in pediatric factor V G1691A (FV) and factor II G20210A (FII) carriers. 230 pediatric patients with deep venous thrombosis (DVT: n=143) or arterial ischaemic stroke (AIS: n=94) carrying either the FV (n=178) or the FII variant (n=52) not suffering from additional thrombophilic risk factors were consecutively enrolled from 2 US centers and one German database. Antithrombotic therapy was performed according to standard protocols either with LMWH/vitamin K-antagonists (DVT) or LMWH/ASS (AIS) for 6 months (range: 3–indefinitive). Patients were followed for a median of 5.4 years (range: 1–23). FV children with first disease onset were significantly younger compared with patients in the FII group (p=0.02), and showed more abdominal vein thrombosis than children with the FII variant (p=0.02). Following withdrawal of antithrombotic therapy a first recurrent event was diagnosed in 12 of 178 children with the FV mutation (6.7%), whereas pediatric patients with the FII mutation showed recurrent thrombosis in 6 of 52 patients (11.5%). Median (range) relapse time was 6.5 years (0.1–15.2) in FV carriers compared with 15 years (13–16) in the FII group (p=0.06). Interestingly, recurrent thrombotic events were recorded significantly more often in children with DVT compared with AIS (p< 0.001). In conclusion, the clinical phenotypes of FVC and FII are different with respect to first thrombotic onset, and thrombotic locations, and recurrent thrombosis in both phenotypes occurred more often in DVT compared with AIS.

Factor II G20210A and Factor V G1691A Gene Mutations and Peripheral Arterial Occlusive Disease

2000 ◽  
Vol 83 (01) ◽  
pp. 20-22 ◽  
Author(s):  
Herwig Köppel ◽  
Marianne Brodmann ◽  
Edmund Pabst ◽  
Katharina Schallmoser ◽  
Hermann Toplak ◽  
...  
Keyword(s):  
Peripheral Arterial Occlusive Disease ◽  
Gene Mutations ◽  
Arterial Occlusive Disease ◽  
Occlusive Disease ◽  
Factor V ◽  
Factor Ii ◽  
Factor V G1691a ◽  
Factor V Gene ◽  
Prothrombin Gene ◽  
Peripheral Arterial

SummaryG to A mutations at positions 20210 of the prothrombin gene (F2) and 1691 of the factor V gene (F5) are established risk factors for venous thrombosis. Several factors associated with coagulation and/or fibrinolysis have been associated with arterial occlusive disease, but the role of F2 20210A and F5 1691A for arterial occlusive disease remains unclear.To investigate if F2 20210A and F5 1691A are associated with peripheral arterial occlusive disease (PAOD).We analyzed the prevalence of F2 20210A and F5 1691A alleles in 336 patients with documented PAOD at Fontaine stage II – IV and 300 controls without vascular disease. Allele frequencies in patients and controls were 0.013 and 0.022 for F2 20210A, and 0.042 and 0.045 for F5 1691, respectively, both differences being not statistically significant.Our data suggest that mutations F2 G20210A and F5 G1691A are not associated with PAOD.

scholarly journals Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population

2002 ◽  
Vol 71 (4) ◽  
pp. 300-305 ◽  
Author(s):  
Ramzi R. Finan ◽  
Hala Tamim ◽  
Ghada Ameen ◽  
Huda E. Sharida ◽  
Mooza Rashid ◽  
...  
Keyword(s):  
Recurrent Miscarriage ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V G1691a

Prevalence of the Factor V G1691A and the Factor II/prothrombin G20210A gene polymorphisms among Tamilians

2005 ◽  
Vol 79 (1) ◽  
pp. 9-13 ◽  
Author(s):  
T. Angeline ◽  
Heather A. Bentley ◽  
Arnold B. Hawk ◽  
Richard J. Manners ◽  
Harsha A. Mokashi ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor Ii ◽  
Factor V G1691a

Risk of Pregnancy-related Venous Thrombosis in Carriers of Severe Inherited Thrombophilia

2001 ◽  
Vol 86 (09) ◽  
pp. 800-803 ◽  
Author(s):  
Cristina Legnani ◽  
Paolo Bucciarelli ◽  
Elvira Grandone ◽  
Valerio De Stefano ◽  
Pier Mannuccio Mannucci ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Study Cohort ◽  
Factor V ◽  
Thrombotic Risk ◽  
Increased Risk ◽  
Prothrombin Gene ◽  
Heterozygous Carriers ◽  
Anticoagulant Prophylaxis

SummaryHomozygous carriers of factor V Leiden have an approximately 80-fold increased risk of venous thrombosis. Also double heterozygous carriers of both the factor V Leiden and the prothrombin gene mutations are at high thrombotic risk. The magnitude of the risk of venous thrombosis in pregnant women with the two severe thrombophilic conditions has not been estimated so far. We performed a multicenter retrospective family study in women with homozygous factor V Leiden, double heterozygous factor V Leiden and the prothrombin gene mutation, and women with normal coagulation. Only relatives of index patients with thrombosis formed the study cohort. Fifteen homozygous and 39 double heterozygous women were compared to 182 women with normal coagulation. Venous thrombosis occurred in 3 of 19, 2 of 50 and 1 of 221 pregnancies, respectively. One thrombotic episode occurred in the third trimester, the remaining 5 in the postpartum. The prevalence of venous thrombosis was 15.8% (95% CI 3.4-39.6) for homozygotes, 4.0% (95% CI 0.5-13.7) for double heterozygotes and 0.5% for women with normal coagulation. The relative risk of pregnancy-related venous thrombosis was 41.3 (95% CI 4.1-419.7) for homozygous and 9.2 (95% CI 0.8-103.2) for double heterozygous carriers. In conclusion, homozygous carriers of factor V Leiden and, to a lesser extent, double heterozygous carriers of factor V Leiden and of the prothrombin mutation have an increased risk of venous thrombosis during pregnancy, particularly high during the postpartum period. On the basis of these findings we recommend that these women receive anticoagulant prophylaxis at least in the postpartum, that should perhaps be extended to the whole pregnancy in homozygous carriers.

scholarly journals Venous Thrombosis with Both Heterozygous Factor V Leiden (R507Q) and Factor II (G20210A) Mutations

2012 ◽  
Vol 25 (4) ◽  
pp. 199-205 ◽  
Author(s):  
Feriyl Bhaijee ◽  
Brenda Jordan ◽  
Dominique J. Pepper ◽  
Rodney Leacock ◽  
William A. Rock
Keyword(s):  
Venous Thrombosis ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor Ii

Coexistence of Factor V Leiden and Factor II A20210 Mutations and Recurrent Venous Thromboembolism

1999 ◽  
Vol 82 (12) ◽  
pp. 1583-1587 ◽  
Author(s):  
Giovanna D’Andrea ◽  
Donatella Colaizzo ◽  
Giuseppe Cappucci ◽  
Annamaria del Popolo ◽  
Vincenzo Brancaccio ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Antiphospholipid Antibodies ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor Ii ◽  
Recurrent Venous Thromboembolism ◽  
Fv Leiden ◽  
Gene Defects ◽  
Work Up

SummaryPatients carrying the FV Leiden or the FII A20210 mutation have a high risk of venous thromboembolism. Among 542 patients with a documented diagnosis of deep venous thrombosis in one leg consecutively referred for a thrombophilic work-up, we have retrospectively assessed the rate of objectively documented previous recurrence in carriers of both FV Leiden and FII A20210 mutations. Eighty-two patients had experienced 115 episodes of recurrent venous thromboembolism. The rate of recurrent venous thromboembolism was 29.2% among subjects with and 14.5% in those without deficiencies of natural anticoagulant proteins (p = 0.055), and 24.6% among patients with and 14.0% in those without antiphospholipid antibodies (p = 0.036). The frequency of having a recurrent thromboembolism was 16.2%, 20.0%, and 36.4% among carriers of FV Leiden, FII A20210 mutation, or both gene defects, respectively, and 12.8% in subjects carrying neither mutation (p for trend = 0.004). When adjusted for age, sex, and thrombophilic risk factors, the rate was higher among patients with than in those without deficiencies of natural anticoagulant proteins (OR: 3.0; 95% CI: 1.2-7.5), aPL 2.5 (95% CI: 1.3-4.9), or both FV Leiden and FII A20210 gene mutations (OR 4.8; 95% CI: 1.9-12.2).The rate of previous recurrent venous thromboembolism was significantly higher in subjects carrying both FV Leiden and FII 20210 mutations and was comparable to that observed in subjects with deficiencies of natural anticoagulant proteins or antiphospholipid antibodies.

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