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Factor V Leiden (rs6025 or F5 p.R506Q [1]) is a variant (mutated form) ... There is also a genetic test that can be done for this disorder. The mutation ...
[2] [5] [4] [13] [14] However, the aPTT-based APC resistance test is much less sensitive to the procoagulatory effects of estrogens than is the ETP-based test. [13] [14] [5] [4] [2] [15] Pregnancy [7] and ethinylestradiol (EE)-containing combined birth control pills increase APC resistance as measured by either the aPTT- or ETP-based test.
The best known and most common hereditary form is Factor V Leiden, which is responsible for more than 95% of cases. [5] Other genetic causes include Factor V Cambridge (VThr306) and the factor V HR2 haplotype (A4070G mutation). [5] [6] Acquired forms of APC resistance occur in the presence of elevated Factor VIII concentrations.
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The minor ("type 2") thrombophilias are much more common. Factor V Leiden is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction. In people with thrombosis, 10% have factor V Leiden. In those who are referred for thrombophilia testing, 30–50% have the defect.
Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden. Prothrombin G20210A was identified in the 1990s. [2] About 2% of Caucasians carry the variant, while it is less common in other populations. [1] It is estimated to have originated in Caucasians about 24,000 years ago. [3]
Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in coagulation, encoded, in humans, by F5 gene. [5] In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor . [ 5 ]
There have also been cases in patients with other deficiency, including protein S deficiency, [6] [7] activated protein C resistance (Factor V Leiden) [8] and antithrombin III deficiency. [ 9 ] Although the above hypothesis is the most commonly accepted, others believe that it is a hypersensitivity reaction or a direct toxic effect.
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