What is it about ?
Thrombophilia is a bleeding disorder characterized by an increased tendency for blood clots to form. It is a general term for conditions that have this characteristic.
Coagulation is important so that you do not continue to bleed at the slightest injury. It is a chain reaction that evolves through different stages.
Either of these steps may not work normally. Thrombophilia can be hereditary or acquired (non-hereditary)
- Hereditary thrombophilia. Genetic factors are responsible for the formation of clots in the veins (venous thrombosis) or, more rarely, in the arteries (arterial thrombosis) during coagulation. The bleeding disorder is passed on from parents (hereditary). An underlying cause of inherited thrombophilia can only be found in 60% of cases.
- Acquired thrombophilia. It is caused by certain illnesses, operations or pregnancy.
What is its frequency?
The most frequent variant is linked to a factor V Leiden abnormality in the heterozygous state. This type of thrombophilia affects 3 to 8 out of 100 people in Western countries and the risk of thrombosis is then more or less 3 times higher than in the general population.
How to recognize it?
If you have a close relative (father, mother, brother or sister) with thrombophilia, you are more likely to have it as well.
If you have had thrombosis at a young age, the link to inherited thrombophilia is quickly established, especially if it is a problem that comes back regularly. Venous thrombosis usually affects the lower part of the leg: the calf is sore and hot, and the lower part of the leg is swollen. Sometimes you also feel a hard bead. This kind of blood clot can also migrate to the lungs. In this case, we will speak of a pulmonary embolism. Its symptoms are shortness of breath, cough, chest pain, dizziness and rapid heartbeat.
How is the diagnosis made?
If any close family members have inherited thrombophilia, the doctor will also examine other family members for the abnormality. To do this, he asks for a blood test or a DNA test.
The doctor will order further technical examinations if he suspects venous thrombosis, based on your symptoms and physical examination. If the thrombosis is confirmed, the doctor will look for any triggers, such as insufficient physical activity, recent surgery, or cancer. Additional examinations for hereditary thrombophilia are carried out only in certain cases, and only if the result of these examinations has an influence on the treatment of the thrombosis.
What can you do ?
If you notice symptoms of venous thrombosis, consult your general practitioner promptly.
Also see a doctor if a genetic defect is detected in a first-degree relative, especially if the defect poses a high risk of blood clots. Depending on the type, further testing will be necessary.
What can your doctor do?
Venous thrombosis as the first symptom of an inherited thrombophilia is treated with anti coagulants, either in the form of tablets or administered daily in syringes under the skin. The choice of treatment and its duration depend mainly on the characteristics of the thrombosis (location, extent, presence of other triggering factors, etc.). Whether it is the hereditary form or not, it has no influence in the decisions made about treatment.
If the screening shows a hereditary abnormality, the anticoagulant treatment is not started directly. The latter is reserved for situations that lead to thrombosis, such as pregnancy, the installation of a plaster cast or surgery. Screening results are important in knowing what type of contraception young women can and cannot take. In fact, female hormones also influence coagulation.
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