factor V Leiden mutation


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factor V Leiden mutation

An autosomal dominant mutation in coagulation factor V that is found in about 5% of all whites. It produces a hypercoagulable state as a result of inherited resistance to activated protein C. Clinically, it is found in many patients with deep venous thrombosis.
See also: mutation

factor V Leiden mutation

A mutation in the gene for the blood clotting factor V that leads to a type of increased clotting tendency known as activated protein C resistance (APC resistance). The mutation involves a CpG dinucleotide, a common location for a mutation. APC resistance from this cause is recognized as a cause of stroke in children but the mutation is often detected for the first time in people over 60 suffering a first episode of thrombosis. The mutation was discovered in the Thrombosis and Haemostasis Research Centre, University Hospital, Leiden, Netherlands.
References in periodicals archive ?
Activated protein C resistance and factor V Leiden mutation can be associated with first as well as secondtrimester recurrent pregnancy loss.
Approximately 95% of patients who are heterozygous for Factor V Leiden mutation at the chromosome R506Q demonstrate APC resistance.
Chen Y, Stanford MR, Wallace GR et al: Factor V Leiden mutation does not correlatewith retinalvascularocclusionin whitepatients with Behcet's disease.
Because of the above data, we considered that the cause of the massive deep vein thrombosis of our case was the combination of Factor V Leiden mutation and high aCL IgG and IgM levels.
Bertina and others (as cited by Maj or, 2000) reported that the factor V Leiden mutation is present in more than 95% of the individuals studied with APC resistance.
The known hereditary causes of thrombophilia include factor V Leiden mutation, APC resistance, protein S deficiency, protein C deficiency, antithrombin III, and prothrombin 20210GA mutation.
The factor V Leiden mutation may predispose women to severe preeclampsia.
The factor V Leiden mutation is present in 3% to 5% of the general white population in heterozygous form.
Conclusion: FVL mutation and Protein C and S are the leading causes of thrombophilia with strong association of Factor V Leiden mutation as risk for developing DVT.
Doing nothing is perilous in a woman of childbearing age carrying the factor V Leiden mutation because pregnancy is also a risk factor for VTE in these women, Dr.
The factor V Leiden mutation (1), which has a frequency of ~1% in Caucasian populations and accounts for most cases of (APC) resistance, makes factor V resistant to cleavage by APC.