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.

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.

The association of factor V leiden mutation with recurrent pregnancy loss

Approximately 95% of patients who are heterozygous for Factor V Leiden mutation at the chromosome R506Q demonstrate APC resistance.

A 52-year-old man with ecchymotic leg ulcers

Chen Y, Stanford MR, Wallace GR et al: Factor V Leiden mutation does not correlatewith retinalvascularocclusionin whitepatients with Behcet's disease.

Association between factor V leiden gene mutation and systemic involvement in behcet's disease/Behcet hastaliginda sistemik tutulum ve faktor V leiden gen mutasyonu arasindaki iliski

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.

Combined heterozygote factor V Leiden mutation and anticardiolipin antibody positivity in a young patient with spontaneous deep vein thrombosis/Kombine heterozigot faktor V Leiden mutasyonu ve antikardiyolipin antikor pozitifligi olan genc bir hastada derin ven trombozu

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.

Factor V Leiden: an overview

The factor V Leiden mutation may predispose women to severe preeclampsia.

Bases geneticas y moleculares de la preeclampsia

The factor V Leiden mutation is present in 3% to 5% of the general white population in heterozygous form.

Activated protein C resistance, the factor V Leiden mutation, and a laboratory testing algorithm. (Original Articles)

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.

High prevalence of protein C protein S antithrombin deficiency and Factor V Leiden mutation as a cause of hereditary thrombophilia in patients of venous thromboembolism and cerebrovascular accident

Cerebrovascular disorders in children with the factor V Leiden mutation.

Fetal thrombophilia, perinatal stroke, and novel ideas about CP: recent research findings point to thrombophilia and to stroke before or right after birth as one more basis for cerebral palsy. But can the knowledge make a difference in outcome?

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.

Estrogen use with factor V Leiden not advised

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.