factor V Leiden mutation


Also found in: Dictionary, Thesaurus, Legal, Acronyms, Encyclopedia.

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 ?
Patients with Factor V Leiden mutation requiring anticoagulation with warfarin should receive extensive counseling regarding alcohol use and the risk of re-initiating therapy after self-discontinuation without heparin bridging.
[41] found APC resistance in 4 (11%) of 35 patients, but the factor V Leiden mutation was confirmed in only 1 of these 4 cases (3%).
Activated protein C resistance, the factor V Leiden mutation, and a laboratory testing algorithm.
Detection of factor V Leiden mutation in severe pre-eclamptic Hungarian women.
Factor V Leiden mutation Protein C and S deficiency are the leading causes of thrombophilia with strong association of Factor V Leiden as a risk for developing DVT and CVA.
Detection of the factor V Leiden mutation by a modified photocross-linking oligonucleotide hybridization assay.
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.
A positive test result for activated protein C resistance typically warrants a polymerase chain reaction assay to distinguish the factor V Leiden mutation from other causes of activated protein C resistance.
The factor V Leiden mutation is present in 3% to 5% of the general white population in heterozygous form.
(4-6) Women with familial coagulation disorders, including factor V Leiden mutation, prothrombin G20210A mutation, deficiencies of anticoagulant proteins (antithrombin, protein C, protein S), and elevations in procoagulant factors (factor VIII, factor IX, factor XI), are 2 to 8 times more likely to experience a VTE event than are unaffected individuals.