HEREDITARY RISK FACTORS OF VENOUS THROMBOEMBOLISM IN YOUNG WOMEN TAKING ESTROGEN DRUGS
(Abstract release date: 05/18/17)
EHA Library. Chechulova A. 05/18/17; 182923; PB2210
Mrs. Anna Chechulova
Contributions
Contributions
Abstract
Abstract: PB2210
Type: Publication Only
Background
Estrogens are recognized as the most common risk factor of venous thromboembolism (VTE) in young women. The cumulative risk of VTE in patients taking estrogens is significantly increased in carriers of inherited thrombophilia. However, the known hereditary risk factors – mutations FV Leiden and FII G20210A could be detected in only 20-30% of patients with VTE.
Aims
To identify the most common hereditary risk factors of VTE in young women taking estrogen drugs.
Methods
We examined 133 young women with acute VTE (mean age 37.4 years; 16-45), who were genotyped by PCR-RFLP method for DNA polymorphism in 9 genes: FI-A Thr312Ala, FI-B -455 G/A, FII 20210 G/A, FV 1691 G/A, FXII 46 C/T, FXIII-A Val34Leu, PAI-1 -675 4G/5G, EPCR Ser219Gly, TPA 311bp Ins/Del. We compared the distribution of studied genotypes in three groups of patients with VTE: taking estrogens (n=30, group 1), with idiopathic VTE (n=42, group 2) or having other risk factors (n=61, group 3). Intergroup differences in genotype frequencies were assessed by Fisher's exact method. Odds ratios (OR), their 95% confidence intervals (CI) and p-values were calculated with SPSS software version 17.0 (SPSS Inc, Chicago, IL, USA).
Results
The frequencies of prothrombotic genotypes in groups 1, 2 and 3, respectively, were: FV 1691GA – 20.0%, 21.4% and 13.1%; FII 20210GA – 10.0%, 9.8% and 7.1%; FI-В –455АA – 10.0%, 2.4% and 1.6%; FI-А 312Ala/Ala – 13.3%, 14.3% and 13.1%; TPA 311bp Ins/Ins – 16.7%, 28.6% and 31.1%; PAI-1 -675 4G/4G – 36.7%, 42.9% and 27.9%; EPСR 219Ser/Gly – 16.7%, 19.0% and 23.0%; EPСR 219Gly/Gly – 3.3%, 7.1% and 0.0%; FXII 46TT – 13.3%, 0.0% and 9.8%; FXIII-A 34 Leu/Leu – 3.3%, 21.4% and 9.8%.
Significant differences between the groups have been detected only for the FXIII-A 34Leu/Leu variant, which was more frequently found in patients with idiopathic VTE than in the group with estrogens (OR=6.5; 95% CI: 1.2-63.4; p=0.012) and women having other risk factors (OR=2.2; 95% CI: 0.8-7.6; p=0.05). The frequency of FI-В –455АA genotype in young women with DVT developed after taking estrogen drugs was 4- and 6-fold higher, respectively, when compared to the group with idiopathic VTE and patients having other risk factors (10.0% vs. 2.4%; OR=4.1, 95% CI: 0.02-2.2, p=0.16 and 10.0% vs. 1.6%; OR=6.6, 95% CI: 0.7-67.0, p=0.067).
Conclusion
FV Leiden and FII 20210G/A mutations as well as the FI-B -455AA genotype are frequently seen in young women with DVT developed after taking estrogen drugs. Further studies are needed to clarify genetic risk factors contributing to VTE development in this group.
Session topic: 34. Thrombosis and vascular biology
Keyword(s): adult, Thrombophilia, Genetic polymorphism, Deep venous thrombosis
Abstract: PB2210
Type: Publication Only
Background
Estrogens are recognized as the most common risk factor of venous thromboembolism (VTE) in young women. The cumulative risk of VTE in patients taking estrogens is significantly increased in carriers of inherited thrombophilia. However, the known hereditary risk factors – mutations FV Leiden and FII G20210A could be detected in only 20-30% of patients with VTE.
Aims
To identify the most common hereditary risk factors of VTE in young women taking estrogen drugs.
Methods
We examined 133 young women with acute VTE (mean age 37.4 years; 16-45), who were genotyped by PCR-RFLP method for DNA polymorphism in 9 genes: FI-A Thr312Ala, FI-B -455 G/A, FII 20210 G/A, FV 1691 G/A, FXII 46 C/T, FXIII-A Val34Leu, PAI-1 -675 4G/5G, EPCR Ser219Gly, TPA 311bp Ins/Del. We compared the distribution of studied genotypes in three groups of patients with VTE: taking estrogens (n=30, group 1), with idiopathic VTE (n=42, group 2) or having other risk factors (n=61, group 3). Intergroup differences in genotype frequencies were assessed by Fisher's exact method. Odds ratios (OR), their 95% confidence intervals (CI) and p-values were calculated with SPSS software version 17.0 (SPSS Inc, Chicago, IL, USA).
Results
The frequencies of prothrombotic genotypes in groups 1, 2 and 3, respectively, were: FV 1691GA – 20.0%, 21.4% and 13.1%; FII 20210GA – 10.0%, 9.8% and 7.1%; FI-В –455АA – 10.0%, 2.4% and 1.6%; FI-А 312Ala/Ala – 13.3%, 14.3% and 13.1%; TPA 311bp Ins/Ins – 16.7%, 28.6% and 31.1%; PAI-1 -675 4G/4G – 36.7%, 42.9% and 27.9%; EPСR 219Ser/Gly – 16.7%, 19.0% and 23.0%; EPСR 219Gly/Gly – 3.3%, 7.1% and 0.0%; FXII 46TT – 13.3%, 0.0% and 9.8%; FXIII-A 34 Leu/Leu – 3.3%, 21.4% and 9.8%.
Significant differences between the groups have been detected only for the FXIII-A 34Leu/Leu variant, which was more frequently found in patients with idiopathic VTE than in the group with estrogens (OR=6.5; 95% CI: 1.2-63.4; p=0.012) and women having other risk factors (OR=2.2; 95% CI: 0.8-7.6; p=0.05). The frequency of FI-В –455АA genotype in young women with DVT developed after taking estrogen drugs was 4- and 6-fold higher, respectively, when compared to the group with idiopathic VTE and patients having other risk factors (10.0% vs. 2.4%; OR=4.1, 95% CI: 0.02-2.2, p=0.16 and 10.0% vs. 1.6%; OR=6.6, 95% CI: 0.7-67.0, p=0.067).
Conclusion
FV Leiden and FII 20210G/A mutations as well as the FI-B -455AA genotype are frequently seen in young women with DVT developed after taking estrogen drugs. Further studies are needed to clarify genetic risk factors contributing to VTE development in this group.
Session topic: 34. Thrombosis and vascular biology
Keyword(s): adult, Thrombophilia, Genetic polymorphism, Deep venous thrombosis
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