Blood coagulation through thrombus formation is a normal procedure, through which an organism tries to stop bleeding from an injured vessel or tissue. Thrombophilia is an abnormal situation in which the organism tends to highly activate the thrombus formation mechanism in the blood cells and on the same time is unable to dissolve the thrombi. The result of this situation is the accumulation and the broad circulation of the thrombi in the circulatory system.
Thrombophilia can be an acquired condition, due to environmental factors. Otherwise, it can be an inherited condition, or even a result of the interaction between inherited genes and environment. People having thrombophilia are likely to show cardiovascular diseases, pulmonary embolism, or even miscarriages. Thrombophilia is basically a genetic diathesis to a condition, rather than a disorder itself. Consequently, people with genetic diathesis towards thrombophilia do not necessarily show symptoms of the condition.
Thrombophilia and pregnancy
Pregnancy is naturally a situation associated with major changes in the organism of the future mother. The pregnant woman tends to have increased thrombus formation because of the high estrogen levels and because the organism tries to protect itself from occasional bleeding.
Thrombophilia is also related with various complications during pregnancy and with early recurrent miscarriages, especially in women with genetic diathesis. Among the serious complications in pregnancy is placenta detachment, intrauterine growth retardation, preeclampsia and fetal death. Although not all women with a genetic diathesis show these complications of thrombophilia, nowadays it is recommended the examination of the woman in a prenatal level to ensure the best management of the pregnancy.
Molecular diagnosis of thrombophilia
Genetic diathesis towards thrombophilia is implicated with mutations in various genes associated with factors (proteins) of the blood coagulation mechanism. The most important implicating factors are antithrombin III, protein C, protein S, factor V Leiden and prothrombin II. Most cases of inherited thrombophilia are related with mutations in the gene of factor V Leiden and in the gene of prothrombin (mutation G20210A). Molecular testing for thrombophilia can detect more than 10 different mutations, which are related with the genetic diathesis.