Factor V Leiden (rs6025 or F5p.R506Q[1]) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability). Due to this mutation, protein C, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to bind normally to factor V, leading to a hypercoagulable state, i.e., an increased tendency for the patient to form abnormal and potentially harmful blood clots.[2] Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans.[3][4][5] It is named after the Dutch city of Leiden, where it was first identified in 1994 by Rogier Maria Bertina under the direction of (and in the laboratory of) Pieter Hendrick Reitsma.[6] Despite the increased risk of venous thromboembolisms, people with one copy of this gene have not been found to have shorter lives than the general population.[7] It is an autosomal dominant genetic disorder with incomplete penetrance.
^Klarin D, Busenkell E, Judy R, Lynch J, Levin M, Haessler J, et al. (November 2019). "Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease" (PDF). Nature Genetics. 51 (11): 1574–1579. doi:10.1038/s41588-019-0519-3. PMC 6858581. PMID 31676865. Archived from the original (PDF) on 2020-01-28. Retrieved 2020-01-28.
^De Stefano V, Leone G (1995). "Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia". Haematologica. 80 (4): 344–56. PMID 7590506.
^Ridker PM, Miletich JP, Hennekens CH, Buring JE (1997). "Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening". JAMA. 277 (16): 1305–7. doi:10.1001/jama.277.16.1305. PMID 9109469.
^Gregg JP, Yamane AJ, Grody WW (December 1997). "Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations". American Journal of Medical Genetics. 73 (3): 334–6. doi:10.1002/(SICI)1096-8628(19971219)73:3<334::AID-AJMG20>3.0.CO;2-J. PMID 9415695.
^De Stefano V, Chiusolo P, Paciaroni K, Leone G (1998). "Epidemiology of factor V Leiden: clinical implications". Seminars in Thrombosis and Hemostasis. 24 (4): 367–79. doi:10.1055/s-2007-996025. PMID 9763354. S2CID 45534038.
^Bertina RM, Koeleman BP, Koster T, et al. (May 1994). "Mutation in blood coagulation factor V associated with resistance to activated protein C". Nature. 369 (6475): 64–7. Bibcode:1994Natur.369...64B. doi:10.1038/369064a0. PMID 8164741. S2CID 4314040.
^Kujovich JL (January 2011). "Factor V Leiden thrombophilia". Genetics in Medicine. 13 (1): 1–16. doi:10.1097/GIM.0b013e3181faa0f2. PMID 21116184.
FactorVLeiden (rs6025 or F5 p.R506Q) is a variant (mutated form) of human factorV (one of several substances that helps blood clot), which causes an...
hemorrhage, while some mutations (most notably factorVLeiden) predispose for thrombosis. The gene for factorV is located on the first chromosome (1q24)...
identified in 1965, while the most common abnormalities (including factorVLeiden) were described in the 1990s. The most common conditions associated...
disorder called factorVLeiden. In factorVLeiden, a G1691A nucleotide replacement results in an R506Q amino acid mutation. FactorVLeiden increases the...
form is FactorVLeiden, which is responsible for more than 95% of cases. Other genetic causes include FactorV Cambridge (VThr306) and the factorV HR2 haplotype...
clotting pathway mutations that increase the risk of clots include factorVLeiden. Prothrombin G20210A was identified in the 1990s. About 2% of Caucasians...
rates. Genetic factors include non-O blood type, deficiencies of antithrombin, protein C, and protein S and the mutations of factorVLeiden and prothrombin...
Prothrombin G20210A is not usually accompanied by other factor mutations (i.e., the most common is factorVLeiden). The gene may be inherited heterozygous (1 pair)...
hormone therapy and hormonal contraceptives) Genetic thrombophilia (factorVLeiden, prothrombin mutation G20210A, protein C deficiency, protein S deficiency...
types Pheochromocytoma Livedoid vasculopathy and its association with factorVLeiden mutation FILS syndrome (polymerase ε1 mutation in a human syndrome...
(December 2017). "Laboratory assessment of Activated Protein C Resistance/FactorV-Leiden and performance characteristics of a new quantitative assay". Transfus...
hypercoagulability. Hereditary APC resistance is usually caused by the factorVLeiden mutation, whereas acquired APC resistance has been linked to antiphospholipid...
clotting disorders such as protein S deficiency, protein C deficiency, or factorVLeiden are also at increased risk of thrombophlebitis. Thrombophlebitis can...
Gurgey A. (1999). "Clinical manifestations in thrombotic children with factorVLeiden mutation". Pediatr Hematol Oncol. 16 (3): 233–237. doi:10.1080/088800199277281...
to pulmonary embolism Ischemic stroke Hypercoagulable states (e.g., FactorVLeiden) — can lead to deep vein thrombosis Mechanical heart valves Myocardial...
polycythemia vera (high red blood cell counts), and is an additional risk factor for complications.[citation needed] A very small number of people report...
such as antiphospholipid antibodies, and congenital ones, including factorVLeiden, prothrombin mutation, proteins C and S deficiencies, and antithrombin...
vein. It most commonly affects leg veins, such as the femoral vein. Three factors are important in the formation of a blood clot within a deep vein—these...
OMIM. It can present in conjunction with protein S deficiency and factorVLeiden. It is not currently known if sticky platelet syndrome is a distinct...
prior thrombotic event or who were genetically coded for clot risk (factorVLeiden or prothrombin mutation). In 2001, the U.S. Food and Drug Administration...
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