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 1,3,4:
- venous thromboses
- organ infarctions
Factor V Leiden is caused by a single point mutation in the F5 gene, located on chromosome 1 1,4. Factor V Leiden has a poor anticoagulant response to activated protein C, which normally degrades activated factor V, resulting in a prothrombotic state 4.
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 1.
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 5.
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- 2. Chae EJ, Do KH, Seo JB et-al. Radiologic and clinical findings of Behçet disease: comprehensive review of multisystemic involvement. Radiographics. 28 (5): e31. doi:10.1148/rg.e31 - Pubmed citation
- 3. Deborah L. Ornstein, Mary Cushman. Factor V Leiden. (2003) Circulation. 107 (15): e94. doi:10.1161/01.CIR.0000068167.08920.F1 - Pubmed
- 4. Van Cott EM, Khor B, Zehnder JL. Factor V Leiden. (2016) American journal of hematology. 91 (1): 46-9. doi:10.1002/ajh.24222 - Pubmed
- 5. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. (1994) Nature. 369 (6475): 64-7. doi:10.1038/369064a0 - Pubmed