Resistance to activated protein C caused by the factor VR506Q mutation is a common risk factor for venous thrombosis.
In 1993, inherited resistance to activated protein C (APC) was described as a novel risk factor for venous thrombosis. APC-resistance is present in 20-60% of venous thrombosis cases. It is caused by a single point mutation in the factor V gene which substitutes arginine (R) at position 506 with a glutamine (Q). The mutation is common in Caucasians with up to 15% prevalence in the population, whereas it is not found among other human races. Mutated factor V (FVR506Q, FV:Q506 or FV Leiden) is partially resistant to APC which results in a hypercoagulable state conferring a life-long increased risk of thrombosis. Individuals having FV:Q506 combined with other anticoagulant defects have a high risk of thrombosis, and it is now generally accepted that severe thrombophilia is a multigenetic disease. Easy functional and genetic tests for inherited APC-resistance will profoundly influence the development of prophylactic regimens and hopefully result in a decreased incidence of thrombosis.
Dahlbäck
B
B
Department of Clinical Chemistry, University of Lund, Malmö, Sweden.
D000925:Anticoagulants / Q000378:metabolism*; D005165:Factor V / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010314:Partial Thromboplastin Time; D011486:Protein C / Q000378:metabolism*; D012307:Risk Factors; D013924:Thrombophlebitis / Q000235:genetics*
D000925:Anticoagulants; D011486:Protein C; C095381:factor V Leiden; D005165:Factor V