Management of inherited thrombophilia: guide for genetics professionals

@article{Varga2012ManagementOI,
  title={Management of inherited thrombophilia: guide for genetics professionals},
  author={Elizabeth A. Varga and Jody L. Kujovich},
  journal={Clinical Genetics},
  year={2012},
  volume={81}
}
Varga EA, Kujovich JL. Management of inherited thrombophilia: guide for genetics professionals. 
Genetic markers for inherited thrombophilia are associated with fetal growth retardation in the population of Central Russia
The aim of this study was to examine the role of hereditary thrombophilia in the development of fetal growth retardation (FGR) in the population of Central Russia.
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References

SHOWING 1-10 OF 75 REFERENCES
Inherited Thrombophilia: Key Points for Genetic Counseling
  • E. Varga
  • Psychology, Medicine
  • Journal of Genetic Counseling
  • 2006
TLDR
The purpose of this review is to educate the genetic counselor on key issues related to risk assessment and genetic counseling for hereditary thrombophilia. Expand
Risk of venous thrombosis in pregnancy among carriers of the factor V Leiden and the prothrombin gene G20210A polymorphisms
TLDR
The purpose of this study was to assess the risk of pregnancy‐related VT associated with the factor (F)V Leiden and prothrombin gene G20210A polymorphisms. Expand
Thrombophilias—Practical Implications and Testing Caveats
  • S. Moll
  • Medicine
  • Journal of Thrombosis and Thrombolysis
  • 2006
This review summarizes recent information about the major thrombophilic conditions, their clinical relevance, and practical aspects pertaining to testing for these thrombophilias, such as when toExpand
Association between inherited thrombophilic abnormalities and central venous catheter thrombosis in patients with cancer: a meta‐analysis
TLDR
Factor (F)V Leiden and the G20210A prothrombin mutation (PTM) may play a role in causing catheter‐related DVT in patients with cancer, but information on the association between these thrombophilic abnormalities and CVC‐related thromBosis are scarce. Expand
Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S.
TLDR
APC resistance was found to be highly prevalent in thrombosis-prone families with protein S deficiency and was an additional genetic risk factor for thROMbosis in these families, which suggest thromBosis- prone families withprotein S deficiency often to be affected by yet another genetic defect. Expand
Factor V Leiden thrombophilia
TLDR
The current evidence suggests that the mutation has at most a modest effect on recurrence risk after initial treatment of a first venous thromboembolism, and long-term anticoagulation is not routinely recommended for asymptomatic Factor V Leiden heterozygotes, although prophylactic anticoAGulation may be considered in high-risk clinical settings. Expand
Risk factors for clinical manifestations in carriers of Factor V Leiden and prothrombin gene mutations
TLDR
Testing for the presence of antiphospholipid antibodies may be warranted in Factor V Leiden and/or prothrombin G20210A gene mutation carriers who develop these adverse clinical manifestations. Expand
Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening.
TLDR
It is indicated that prevalence of factor V Leiden is greater among Caucasians than minority Americans, and this data have implications for clinicians considering whether to screen for factor VLeiden in high-risk groups such as those with prior venous thromboses or coexistent defects of anticoagulation and women at risk for postpartum thromBosis or seeking oral contraceptives. Expand
Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options.
TLDR
A recombinant antithrombin product now under investigation, and recently licensed in Europe, may provide a useful alternative treatment option for sepsis and the critically ill patient where there is a clear correlation between severity of illness and degree of antithROMbin reduction. Expand
Risk of venous thromboembolism in relatives of symptomatic probands with thrombophilia: a systematic review.
TLDR
The risk of VTE events in asymptomatic relatives is low, but this may be an underestimate, and anticoagulant prophylaxis during risk periods appears to be of benefit but further research in this area is required. Expand
...
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