Thrombophilia is a group of disorders affecting the blood coagulation. It is characterized by an increased tendency to form blood clots. Consequently, a higher incidence of venous thrombosis and thromboembolic events is associated with this disease. This is also known as a hypercoagulable condition and/or a prothrombotic state.(1)
Trombosis is the abnormal formation of a blood clot in a blood vessel. The clot then causes an obstruction of blood flow. Physiologically, blood clots are our body's way of stopping bleeding when a blood vessel is damaged. Once the injury heals, the thrombus dissolves and everything returns to normal. In thrombophilia, either clots form at a higher rate or there is no dissolution of those that have already formed.(2)
Thromboembolic events describe a situation where a thrombus is dislodged from the site of origin into the body's circulation and clogs another blood vessel, which can affect various organs, causing damage and even result in death. These include, for example, pulmonary embolism or stroke.
Thrombophilia may be either acquired during life or inherited. The most frequent conditions are listed in the table below. As for acquired forms, the listed factors are known to increase the risk of blood clotting. This however does not mean that everyone who undergoes surgery or is overweight will develop thrombosis because of it.
It is believed that a substantial proportion of the population has a thrombophilic mutation, but in most of them the presence of another risk factor is required for the development of thrombosis.(3)
The prevalence of thrombophilic mutations differs significantly worldwide.
Thrombophilia risk factors include:
Genetic information is inherited in pairs, because every gene has two copies, each from one of the parents. The most common inheritance pattern in thrombophilia is autosomal dominant, which means that to have an active form of the disease, a person only needs to have a mutation in one of the copies. If both copies are affected, the risk of thrombosis increases even more. The same can be said for those who inherit thrombophilic mutations in more than one gene.(5)
The inheritance pattern for thrombophilia can be autosomal dominant, autosomal recessive or X-linked, depending on the gene in question. The most common genes involved are the F5 gene for Factor V Leiden thrombophilia and the G20210A point mutation in the prothrombin gene.(1)
In some people the condition remains dormant their entire life and they never experience thrombosis. In others, blood clots can form in various organs and cause a wide range of symptoms depending on the location.
The diagnosis of thrombophilia is often made after the first symptoms appear and the patient seeks medical attention. To diagnose thrombophilia, several tests and methods may be used:
To date, there is no specific treatment for thrombophilia, except in cases where it is an acquired form due to another disease. However, there are medications which can either be used to dissolve the blood clot in acute states (thrombolytics) or lower the probability of its formation if taken on a regular basis (blood thinners such as heparin, warfarin or new oral anticoagulant drugs). When prescribing blood thinners, it is always necessary to assess the benefits and risks associated with the treatment. The biggest risk is significant bleeding.(2)
There are several ways to prevent thrombophilia and lower the risk of thrombosis: (2)
The risk of thrombosis (and hence the prognosis) varies according to the underlying condition. It also increases significantly with each risk factor present (acquired or inherited). This is why many people with thrombophilia never develop a dangerous blood clot, while others may have a life-threatening condition.Protein S deficiency, protein C deficiency and antithrombin deficiency are far less common but associated with higher risk of venous thrombosis.(6)
Get the guidelines for a healthier and longer life. With Macromo tests, you'll learn your health risks and how to prevent them.
Continue to Shop