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Factor V - Molecular Detection of G1691A Mutation (Leiden)

Includes 1 test

Molecular screening for the coagulation factor V gene Leiden (G1691A) is performed to assess the risk of thrombosis in asymptomatic patients with a severe family history or in patients who have already had a thromboembolic episode.

Several genetic mutations are associated with an increased risk of thromboembolic complications. Some patients with recurrent venous thrombosis cannot coagulate with activated protein C (APC), despite the fact that they have normal protein S levels and have no other detectable abnormalities in the coagulation cascade process. This is due to a mutation in the substrate for APC, factor V (FV). The resistant APC phenotype is associated with heterozygotes or homozygotes for a point mutation at nucleotide 1691, where guanine (G) has been replaced by adenine (A) in the factor V gene (factor V Leiden mutation). This mutation occurs at the binding site of APC and results in the replacement of the arginine amino acid at position 506 (Arg506) by glutamine, resulting in the production of the mutant FV Leiden (FVQ506).

The FV Leiden mutation is the most common lesion associated with an increased risk of recurrent venous thrombosis and can be detected by molecular analysis. The FV Leiden mutation is an important predisposing factor for the occurrence of thrombosis and is an important risk factor for gynecological-obstetric complications associated with abnormalities in the fetal-maternal circulation.

Factor V with the Leiden mutation is more common in women with severe preeclampsia, placental abruption, delayed fetal development and stillbirth.

Thrombophilia is an acquired or congenital disorder associated with thrombosis. The clinical appearance of an underlying thrombophilia mainly involves venous thromboembolism, which is manifested as deep vein thrombosis, pulmonary embolism, or superficial vein thrombosis. Other events associated with thrombophilia include prolonged (recurrent) miscarriages and complications of pregnancy such as severe preeclampsia, placental abruption, and fetal endometrial death. The demographic and environmental characteristics that contribute to the risk of venous thromboembolism in people predisposed to thrombophilia include: old age, gender (more commonly in men), obesity, surgery, trauma, hospitalization, malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen and raloxifene) and certain drugs used to treat hypoglycemia equality.



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