THROMBOTIC RISK PANEL

Thrombophilia is a physiological state in which blood is more likely to form blood clots, which may give rise to deep vein thrombosis or pulmonary embolism.

This is caused by defects in clotting factors. 50% of thrombophilia cases are genetic, which rises to 70% in those cases where there are repeated episodes of thrombosis.

70% of people who carry a genetic mutation for thrombophilia are unaware, putting them at high risk of developing this disease.

Thrombophilia is associated with a higher risk of pregnancy complications, such as recurring early miscarriage during the first 10 weeks of pregnancy, intrauterine foetal death, premature birth, intrauterine growth restriction, placental abruption and preeclampsia. The mechanism that leads to pregnancy complications involves hypercoagulability and inflammation, affecting normal embryonic and foetal development due to poor irrigation.

In addition, the relationship between oral contraceptives and venous thromboembolic disease has been known for many years and has been widely proven. Women are therefore advised to find out if they are carriers of any gene mutation responsible for thrombophilia before taking contraceptives.

Scientific societies recommend that the following risk groups undergo genetic thrombophilia studies:

• Venous thrombosis or early pulmonary embolism (under 40 years old).
• Recurring thromboembolism and thrombophlebitis.
• Pregnant women.
• Women considering taking oral contraceptives or hormone    
• replacement therapy.
• People with a family history of venous thrombosis.
• Cases of recurring miscarriages.
• Obese individuals or people with diabetes, lupus or viral infections.

A series of risk factors must be taken into account by those who have a mutation in the abovementioned genes, since they increase the likelihood of suffering from the disease. Those factors are:

• Intercontinental trips (economy-class syndrome)
• Rest after surgery
• Extended immobilisation for various reasons
• Pregnancy
• Use of contraceptives or other hormone replacement therapies
• Smokers
• Obesity

A positive result in the genetic test allows us to take the adequate preventive measures in the event of any of the aforementioned risk factors. 
In cases of recurring miscarriages, if the problem is a mutation in a gene involved in the clotting chain, the implementation of pharmacological treatment with anticoagulants significantly decreases the likelihood of suffering a miscarriage.

The test includes the study of 15 genetic variants of 11 genes responsible for different clotting factors:

F13A (1), FII (2), FV (1), FGB (1), GP1BA (1), MTHFR (2), PAI1 (2), PROCR (1), PROS1 (1), SERPNIC1 (2), FXII (1).

After taking a simple blood test, you will receive the results in just 15 days.

To undergo the test, call 902 121 054 or email genetica@e-icm.net and we will tell you how to proceed and direct you to your nearest laboratory.

To undergo the genetic study, you must first complete the application form and sign the informed consent form.

ICM boasts a team of genetic counsellors to support you and answer any questions you may have, such as the risk of having a specific mutation, the risk of having cancer, whether or not genetic testing is suitable, the likelihood that your relatives may have the disease, etc.

You can count on them. They are there to help. Please email our team at pacientes@e-icm.net.

You could also attend a consultation with one of the geneticists of our group.