Molecular testing for the fibrinogen beta gene promoter 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.
Fibrinogen (coagulation factor I) is a glycoprotein, synthesized by the liver, which participates in the coagulation cascade. Fibrinogen is converted to fibrin in the presence of thrombin. Elevated levels of fibrinogen have been associated with an increased risk for atherosclerosis, deep vein thrombosis as well as cardiovascular diseases. Fibrinogen consists of three pairs of polypeptide chains (called alpha, beta, and gamma chains) that are linked by disulfide bonds. These three chains are encoded by three different genes (alpha (α), beta (β), and gamma (γ) fibrinogen genes, respectively) located on chromosome 4. A frequent polymorphism at position 455 in the region of the fibrinogen beta gene promoter (G455A, adenine in place of guanine) has been associated with elevated fibrinogen levels (for AA 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 recurrent miscarriages and complications of pregnancy such as severe preeclampsia, placental abruption, and intrauterine fetal demise. 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 for other diseases, malignant neoplasms, prolonged immobility (such as long air travel), use of certain medications (such as contraceptives, estrogen, tamoxifen and raloxifene, and certain medications used to treat infertility).
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. The 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.