Factor V Leiden mutation
Factor V Leiden is a primary hypercoagulable state due to a variant (mutated form) of human factor V. Factor V is one of several coagulation factors that assist in the clotting pathway.
Heterozygous factor V Leiden may be present is around 5% of the European population and is most common in people of Northern European descent and in some Middle Eastern populations. The homozygous and more severe form is found in fewer than 1%.
Patients can have multiple thrombotic-embolic complications which include :
- venous thromboses
- organ infarctions
Factor V Leiden is caused by a single point mutation in the F5 gene, located on chromosome 1 . Factor V Leiden has a poor anticoagulant response to activated protein C, which normally degrades activated factor V, resulting in a prothrombotic state .
There are no specific radiographic features. Imaging findings are mainly in the form of identifying thrombotic-embolic complications.
Treatment and prognosis
The presence of factor V Leiden does not change anticoagulant management in patients with thromboembolism, and there is currently no role for prophylactic anticoagulation for patients who are homozygous or heterozygous to the factor V Leiden allele .
History and etymology
The mutated factor is named after the city of Leiden, where the seminal research to discover its causative genetic mutation was conducted in 1994, by Rogier M Bertina and his Dutch colleagues .