Factor V Leiden
Published Online: 15 MAR 2011
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Dahlbäck, B. 2011. Factor V Leiden. eLS. .
- Published Online: 15 MAR 2011
Factor V (FV) Leiden is the most common genetic risk factor for venous thrombosis in western societies. It is caused by a single point mutation in the coagulation factor V gene (F5), which results in the replacement of arginine at position 506 with a glutamine. Arginine 506 constitutes one of three cleavage sites in FV for the anticoagulant activated protein C (APC) and FV Leiden is resistant to APC cleavage at this site. This causes an imbalance between pro- and anticoagulant forces and as a result a lifelong hypercoagulable state that increases the risk of venous thrombosis. The FV Leiden mutation is the result of a single mutation event that is estimated to have occurred around 25000 years ago in a Caucasian ancestor. The prevalence of the mutation varies between zero and 15% in different ethnic populations.
Blood coagulation is controlled by anticoagulant pathways.
Venous thrombosis is a multifactorial disease.
Multiple genetic factors contributes to the risk of venous thrombosis.
Protein C, protein S, TFPI (tissue factor pathway inhibitor) and antithrombin are the main anticoagulant proteins in plasma.
Factor V is an important blood coagulation protein, which after its activation by thrombin functions as cofactor to factor Xa in the activation of prothrombin.
Factor V can be both pro- and anticoagulant.
APC resistance caused by a single factor V gene (f5) mutation is the most common genetic risk factor.
Factor V Leiden is the result of a single mutation event that took place around 20–25000 years ago.
Factor V Leiden is mainly present in Caucasians.
The Factor V Leiden mutation results in the replacement of Arg506 with a Gln.
One of the APC (activated protein C) cleavage sites in FV (at Arg506) is lost because of the Factor Leiden mutation.
- blood coagulation;
- protein C;
- APC resistance;
- factor V