Genetic testing for thrombosis is worth doing when you have swollen legs, and sometimes your legs hurt even when you rest. This may indicate a predisposition to thrombosis - a serious disease of the cardiovascular system. This tendency is sometimes written in genes and it is worth checking.

The tendency to develop venous thrombosis is also known as hypercoagulability or thrombophilia. Whatever the name, thrombosis is a disturbance in the hemostatic system. Its task is to keep the blood circulating in the vessels in a liquid state and to make it coagulate outside the vessels. Disturbances mean the possibility of blood clots not only in the veins but also in the arteries. Thrombosis can be congenital, that is, genetically determined, or acquired. It includes superficial or deep veins, usually those in the legs. When blood flow is slowed, the blood vessel is damaged and a clot forms due to an imbalance between the factors that thin the blood and cause it to clot.

Genetic testing for thrombosis: who should get it?

Generally speaking, all people who have or have vein troubles have had a history in their family. The indication for testing for thrombophilia is venous thrombosis, which appeared before 45-50. years of age and its cause was not specified. Another group includes people with a family history of the disease and suffering from recurrent thrombosis. Thrombosis in an atypical area of ​​the body, e.g. in the abdominal cavity or central nervous system, during pregnancy and during the use of oral contraception or hormone replacement therapy should also prompt the examination. The next group to study are women who have had habitual miscarriages or who gave birth to stillborn babies.

Worth knowing

Symptoms of deep vein thrombosis

  • pain while resting
  • pressure soreness
  • pain when walking
  • swollen legs
  • increased temperature (heat) of the diseased area
  • skin redness
  • excessive blood filling in superficial veins
  • pain when bending the foot

Most cases of deep vein thrombosis will not work initiallybothersome symptoms or they are not very specific. When the disease develops, symptoms appear suddenly and worsen very quickly.

How is the test done?

If you know that you are prone to thrombosis, you can take care of your vessels and avoid the dangerous effects of the disease. The biological material that is collected to assess the genetic burden towards thrombophilia is blood (a drop is enough). Can be pulled from the finger. Another, but equally valuable, material can be saliva collected with a spatula from the inside of the cheek. You don't need to fast.

Benefits of diagnosis

Undergoing genetic testing for thrombophilia, we obtain information about the risk of thromboembolism. Thrombophilia can be associated with several genetic abnormalities. If the test shows that we have the Leiden mutation, a genetic defect that occurs in about 5% of white people, it is known that we have a 3-7 times higher risk of developing venous thrombosis. Without going into the medical details, a mistake in the F5 gene disrupts hemostasis and increases the risk of developing thromboembolic changes. The thrombophilic predisposition associated with the Leiden mutation is predominantly inherited (the inherited altered copy of the gene dominates the normal copy, causing disease).

Women with thrombophilia associated with prothrombin (a clotting factor) have an increased risk of losing another pregnancy.

People burdened with this mutation should remember that long journeys (by plane, car), keeping the body in one position for a long time (sitting in front of the computer for many hours), smoking, using oral or hormonal contraception may be dangerous for their he alth. replacement therapy. The knowledge about the presence of the Leiden mutation is important information for the doctor who prepares the patient for surgery, organ transplantation or insertion of a central venous catheter. According to medical statistics, 15% of diagnosed pregnancies end in miscarriage for this reason. The combined occurrence of both disorders significantly increases the risk of thromboembolic conditions. Other gene mutations may contribute to myocardial infarctions.

How to correctly check the condition of the veins?

The condition of the veins can be assessed in many ways, but their selection should depend on the type of ailments, the patient's he alth past, and the initial diagnosis. Imaging tests (e.g. Doppler examination of veins and arteries) or typical blood tests to determine the state of the plasma coagulation system, e.g. the prothrombin index, are insufficient in the assessment of innate thrombosis. Ingenetic testing is very useful in assessing the tendency to clot formation. You only need to do them once in your life. It is worth adding that it pays to know about your tendencies, because an untreated thrombosis can lead to the development of thromboembolism, which is considered a life-threatening condition. Being aware of the risk, one can protect against it by appropriate actions.

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