Thrombophilias

Testing for thrombophilia is recommended to women with a history of recurrent pregnancy loss.

 

  • What is thrombophilia and why do we test for it?

    Thrombophilia describes a condition in which the blood of the human body has an increased tendency in forming clots. It is an inherited disorder, but can be also acquired.

    Increased clot forming in the blood results from an imbalance of its fluidity components, the coagulants and anti-coagulants as they called. Coagulants enable the thickening of the blood after bleeding, for instance, and anti-coagulants increase its liquidity.

    In women, inherited thrombophilia often results in pregnancy loss or moderate-to-severe complications. Formation of a blood clot in a vascularized area of the lining of the womb can lead to a failed implantation and early miscarriage. But even in cases that implantation occurs, a freed flow of blood is essential for the development, nutrition and support of the embryo and later the fetus. Pregnant women with thrombophilia are at risk of:

    • Implantation failure
    • Repeated miscarriage
    • Low levels of amniotic fluid (oligohydramnios)
    • Pre-eclampsia (a condition characterized by high blood pressure and high protein levels in urine)
    • Thrombophlebitis (inflamed and blood-clotted veins in pregnant women)
    • Deep vein thrombosis (formation of blood clots in the larger veins of the legs)
    • Intra-uterine growth retardation
    • Unexplained intra-uterine fetal death
    • Premature labor 

    However, thrombophilia can be treated or managed with medication allowing normal and healthy babies to be born.

    To diagnose whether you have the condition, we normally test on blood samples for the two most common types of thrombophilia, factor V Leiden gene mutation and prothrombin gene mutation (G20210A). Routinely, we also check for markers such as the activity of protein C, protein S and activated protein C, as well as the levels of homocysteine and anti-thrombin III. These can give us a quick indication for the risk of developing placenta clots and deep vein thrombosis. For patients with rarer or more sever types of thrombophilia, we employ a more sophisticated test that involves a more comprehensive panel of thrombophilia genetic markers.

  • Who may need a thrombophilia test?

    Thrombophilia testing is part of the investigation for women that had an early pregnancy loss or experienced repeated miscarriages.

    In addition, thrombophilia can be completely asymptomatic and if you have knowledge that is running in your family, a test determining your status while planning for a family is highly recommended. In cases that it is not inherited, you may still develop thrombophilia due to other causes. If you are not certain of your symptoms or not knowing your family’s health history, please speak to your treating doctor who will be able to assess whether you need thrombophilia testing.

  • How is thrombophilia testing done?

    Thrombophilia can be diagnosed by having a series of blood tests. You will need to attend our day clinic in AAFC for providing the samples. Following, these will be sent off to the laboratory for analysis. At a follow up consultation, your doctor will explain to you your results, offer you further information and prescribe you with a treatment, if required.