Molecular screening for the H1 haplotype of the endothelial protein C receptor (EPCR) gene is performed to assess the risk of thrombosis in asymptomatic patients with a positive family history of thrombosis or in patients who have already experienced a thromboembolic episode.
The endothelial protein C receptor (EPCR), also known as the activated protein C receptor (APC receptor), is a protein encoded by the PROCR gene. The protein encoded by this gene is a receptor for protein C that enhances its activation, plays a key role in regulating coagulation, inflammation, and endothelial cell integrity. EPCR is a transmembrane glycoprotein, expressed primarily in endothelial cells, but also in a variety of other cells, including neutrophils. EPCR is also found as a plasma soluble form (sEPCR) where it binds activated protein C (APC) in competition with its cellular binding. Elevated levels of sEPCR have been associated with polymorphisms in the PROCR gene encoding the EPCR.
There are four haplotypes designated by corresponding polymorphisms: H1-H4. The H3 haplotype has been associated with elevated plasma levels of sEPCR and has been proposed as a risk factor for venous thrombosis. In contrast to the H3 haplotype, the H1 haplotype has been associated with increased plasma APC concentration and a protective effect against venous thrombosis. Mutations in the PROCR gene have been associated with venous thromboembolism and myocardial infarction, as well as with delayed fetal loss during pregnancy. People with the H3 haplotype have a 1.8-fold increased risk of thrombosis. Those with the H1 haplotype in homozygosity, have higher APC levels and therefore a reduced risk of venous thrombosis. Specifically, homozygotes (C/C) have a reduced risk of thrombosis by 0.61 times.
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 (pregnancy loss) and complications of pregnancy such as severe preeclampsia, placental abruption, and fetal intrauterine 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 for other diseases, malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen, raloxifene, and certain drugs 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.
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