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Factor V Leiden

  1. Björn Dahlbäck

Published Online: 15 MAR 2011

DOI: 10.1002/9780470015902.a0005537.pub2

eLS

eLS

How to Cite

Dahlbäck, B. 2011. Factor V Leiden. eLS. .

Author Information

  1. Lund University, Department of Laboratory Medicine, Skåne University Hospital, Malmö, SE 20502 Malmö, Sweden

Publication History

  1. Published Online: 15 MAR 2011

Abstract

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.

Key Concepts:

  • 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.

Keywords:

  • blood coagulation;
  • trombosis;
  • protein C;
  • APC resistance;
  • factor V