The Risk of Recurrent Deep Venous Thrombosis among Heterozygous Carriers of Both Factor V Leiden and the G20210A Prothrombin Mutation

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.

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FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control Study

Journal of Medical Biochemistry ◽

10.2478/v10011-010-0050-7 ◽

2011 ◽

Vol 30 (1) ◽

pp. 51-54

Author(s):

Iva Salatić ◽

Katarina Kiralj ◽

Gorana Mitić ◽

Igor Veselinović ◽

Dušan Vapa

Keyword(s):

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Case Control Study ◽

Factor V Leiden ◽

Case Control ◽

Factor V ◽

Increased Risk ◽

Fv Leiden ◽

Heterozygous Carriers ◽

Control Study

FV Leiden Mutation and Deep Venous Thrombosis in Vojvodina: A Case-Control StudyBetween September 2007 and February 2010, the occurrence of symptomatic deep venous thrombosis (DVT) was investigated in a cohort of 79 consecutive patients. A case-control study inclu ded 71 healthy controls matched with cases for sex and age. The prevalence of factor V G1691A mutation genotype was analyzed. Eighteen cases (22.79%; 95% confidence interval (CI) 13.53% to 32.03%) and four controls (5.63%; 95% CI 0.27% to 10.99%) were heterozygous carriers of FV Leiden (p= 0.025). The odds ratio for DVT was 4.94 (95% CI 1.58 to 15.42) and the relative risk 4.04 (95% CI 1.44-11.38) compared with FV 1691G carriers. Four cases were homozygous carriers of FV Leiden, giving a prevalence of 5.06% (95% CI 0.23 to 9.89%) and no controls, therefore OR and RR calculation was based on the prevalence of homozygotes in the general Caucasian population. The OR for DVT was 47.28 (95% CI 0.04 - 52167.3) and the RR 45.57 (95% CI 0.04 to 49540.77; p=0.025) compared with FV 1691 G carriers. Our study confirms that factor V Leiden carriers in Vojvodina, as in similar studies previously carried out in other populations, have an increased risk of developing DVT. The evaluated risk of DVT in heterozygous carriers of the mutation is four- to five-fold higher, whereas for homozygous carriers it is 45- to 48-fold higher than in non-carriers. These results confirm that patients with DVT and their relatives should undergo screening for FV Leiden mutation.

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Combined Factor V Leiden (R506Q) and prothrombin G20210A genotyping in young patients presenting with deep venous thrombosis

Phlebology The Journal of Venous Disease ◽

10.1258/026835506775971171 ◽

2006 ◽

Vol 21 (1) ◽

pp. 24-27 ◽

Cited By ~ 2

Author(s):

A Mansilha ◽

F Araújo ◽

M Severo ◽

S M Sampaio ◽

T Toledo ◽

...

Keyword(s):

Risk Factor ◽

Young People ◽

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Young Patients ◽

Factor V Leiden ◽

First Episode ◽

Control Group ◽

Factor V ◽

Factor V Leiden Mutation

Objective: To evaluate the association between the Factor V Leiden (FV R506Q) and prothrombin gene (FII G20210A) mutations and deep venous thrombosis (DVT) in young people. Methods: Blood samples were drawn from 199 subjects: 100 healthy controls and 99 unselected patients, with an objectively documented first episode of DVT under 40 years old. DNA analysis was performed using the polymerase chain reaction. Results: The mean age in the patient cohort was 27 years (range 16–40) and 68 (68.7%) were women. Patient prevalences were 20.6% and 10.1% for FV R506Q and FII G20210A, respectively. In the control group, carrier frequencies were 2% and 5%, respectively. We found an increased overall relative risk of DVT with statistical significance for FV R506Q carriers (OR: 12.8; 95% CI: 2.9–56.7; P < 0.001), but not for FII G20210A mutation (OR: 2.1; 95% CI: 0.7–6.5; P = 0.19). Conclusions: Our results suggest a possible increase in DVT risk for the young G20210A allele carriers, which can be more expressed in the presence of a circumstantial risk factor. There is extremely strong evidence that the Factor V Leiden mutation is an important risk factor in the development of a first episode of DVT in young people.

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High Prevalence of Factor V Leiden Mutation among Healthy Individuals and Patients with Deep Venous Thrombosis in Lebanon:

Thrombosis and Haemostasis ◽

10.1055/s-0037-1616118 ◽

2001 ◽

Vol 86 (08) ◽

pp. 723-724 ◽

Cited By ~ 25

Author(s):

Ali Taher ◽

Ismail Khalil ◽

Ali Shamseddine ◽

Fadi El-Ahdab ◽

Ali Bazarbachi

Keyword(s):

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Factor V Leiden ◽

Factor V ◽

Healthy Individuals ◽

Factor V Leiden Mutation ◽

High Prevalence

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Relation of Factor V Leiden Genotype to Risk for Acute Deep Venous Thrombosis after Joint Replacement Surgery

Annals of Internal Medicine ◽

10.7326/0003-4819-128-4-199802150-00003 ◽

1998 ◽

Vol 128 (4) ◽

pp. 270 ◽

Cited By ~ 47

Author(s):

Daniel H. Ryan

Keyword(s):

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Joint Replacement ◽

Factor V Leiden ◽

Factor V ◽

Joint Replacement Surgery ◽

Replacement Surgery

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246 PAI-1 4G/5G polymorphism and deep venous thrombosis in factor V Leiden patients

Fibrinolysis and Proteolysis ◽

10.1016/s0268-9499(98)80275-0 ◽

1998 ◽

Vol 12 ◽

pp. 91

Keyword(s):

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Factor V Leiden ◽

Factor V ◽

Pai 1

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

Thrombosis and Haemostasis ◽

10.1055/s-0037-1616134 ◽

2001 ◽

Vol 86 (09) ◽

pp. 800-803 ◽

Cited By ~ 64

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.

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