Genetic testing for the A5673G mutation of the lipoprotein alpha [Lp(a)] gene 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.
Polymorphisms in the lipoprotein alpha [Lp(a)] gene appear to predispose to coronary heart disease, vascular stroke, early atherosclerosis, thrombosis, and stroke. The existence of the A5673G mutation, either in heterozygotes or in homozygotes, is associated with elevated levels of lipoprotein alpha. Individuals with the above polymorphism have a 2-fold increased risk of developing cardiovascular disease but appear to benefit from aspirin administration.
Thrombophilia is an acquired or congenital disorder associated with thrombosis. The clinical appearance of an underlying thrombophilia mainly involves venous thromboembolism, manifested as deep vein thrombosis, pulmonary embolism, or superficial vein thrombosis. Other events associated with thrombophilia include recurrent pregnancy loss 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, estrogens, tamoxifen, raloxifene, and certain drugs used for the treatment of infertility).
Important Note
Laboratory test results are the most critical parameter for diagnosing and monitoring all pathological conditions. Between 70 to 80% of diagnostic decisions are based on laboratory tests. Correctly interpreting 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 analyzed based on each case and family history, clinical findings, and the results of other laboratory tests and information. Your 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 contact your doctor to ensure you receive the best possible medical care.
