What is thrombophilia?
When we talk about thrombophilia we are talking about hypercoagulability, that is, a greater facility to form clots, to form thrombi, from one patient to another in the same situation.
Most of the patients who have a venous thrombosis, who have a pulmonary embolism, occur in situations that are well known to physicians. They are patients who have been hospitalized for a long time, patients who are immobilized for a long time, especially if they are elderly, patients who have had major surgery, often with stormy postoperative periods, and patients with cancer.
But other times we find patients who do not adapt to any of these situations in which we are a little surprised that they have venous thrombosis, that they have a pulmonary embolism, that they have repeated miscarriages, which is another manifestation of thrombophilia. And these patients are the ones who send us hematologists to be studied. So hematologists are going to see patients who have had a pulmonary embolism, who have had venous thrombosis and whose risk factors are not very clear. We are going to find young patients who have had venous thrombosis.
We are going to find patients who are relatives of someone already diagnosed with thrombophilia. We are going to find patients with repeated miscarriages because many times miscarriages can be a cause of…. basically it is one more thrombosis, a thrombosis but this time of the placental vessels. We can see patients with assisted reproduction treatments who have implantation failures and although it is not very clear it seems that these failures could be a little more frequent in patients with thrombophilia. And other less frequent situations that we hematologists sometimes also have to study, such as problems during pregnancy, thrombosis in rare sites, young patients who have cerebral microinfarcts…. All these patients are the ones that we hematologists are going to ask for thrombophilia studies.
What does a thrombophilia study include?
Well, we ask for a normal blood test and also a series of specific parameters. We are going to want to know how the levels of a series of proteins involved in coagulation are, coagulation protein C, coagulation protein S, antithrombin III, if there are low values the patient will be at greater risk of thrombosis. We are going to look at factor VIII, which when it is high can favor thrombosis, we are going to study homocysteine, which is an amino acid that has prothrombotic properties, that is, it favors thrombi and there are some people who have it above normal values. We are going to study a series of antibodies that appear in some autoimmune diseases such as antiphospholipid syndrome, which are lupus anticoagulant, anticardiolipin antibodies, and Anti Beta2 and glycoprotein 1 antibodies. We are going to study frequent mutations that are associated with thrombosis such as the factor V Leiden mutation and the prothrombin gene mutation.
Are all thrombophilias the same?
No. When a patient has miscarriages, when a patient has a venous thrombosis, when a patient has a pulmonary embolism, not all circumstances are the same. Many times it is the hematologist who is best qualified to know the importance of having detected thrombophilia in a particular person. Antithrombin 3 deficits, protein C deficits, protein S deficits are much more important than the other parameters we have found. But the most important thing of all is the personal history; if a patient has had a thrombosis, the chances of it recurring are very high. And the hematologist will have to evaluate whether this risk justifies maintaining treatment or whether it is not necessary to maintain it.