Factor V Leiden mutation

Last updated: Tuesday, 03, August, 2010
Key InformationAppropriate Tests

 A mutation in the factor V coagulation molecule which renders it resistant to cleavage by activated protein C and leads to a condition referred to as activated protein C resistance.

It occurs in ~ 5% of the Australian population in the heterozygous form and is associated with an increased risk of venous thromboembolism. 

The risk of arterial thrombosis does not appear to be increased.

Testing is indicated in patients who have had venous thromboembolism where investigation for an underlying cause is appropriate (see Thrombosis).

Testing is contoversial and is not considered indicative in asymptomatic individuals unless the defect has been established in a first degree relative.

Activated protein C resistance (screening).

PCR for Factor V Leiden

See Molecular genetics - individual genetic disorders