Molecular testing of coagulation factor XIII gene V34L polymorphism is performed to assess the risk of thrombosis in asymptomatic patients with a severe family history or in patients who have already experienced a thromboembolic episode.
In the final coagulation step, factor XIII (coagulation factor 13) is activated by its activating peptide. Activated factor XIII creates covalent cross-linking of fibrin and conversion of soluble fibrin molecules to a stable insoluble clot. Factor XIII also participates in other physiological processes, including clot contraction, cell migration, and wound healing.
Factor XIII gene has a common Val34Leu polymorphism that causes a change in polypeptide chain structure near the thrombin cleavage site. V34L polymorphism has been associated with a reduced risk for venous thrombosis, coronary heart disease, and stroke in several studies.
VV homozygotes account for approximately 53% of cases, VL homozygotes for 39% of cases and have a relatively reduced risk of developing coronary heart disease and venous thrombosis, while LL homozygotes account for 8% of cases and have a 30% lower risk of coronary heart disease and venous thrombosis in relation to VV homozygotes.
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.
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. Correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
At Diagnostiki Athinon we answer any questions you may have about the test you perform in our laboratory and we contact your doctor to get the best possible medical care.