Thrombosis is a disease in which blood clots form in the bloodstream. These clots can clog certain blood vessels and reduce the flow of blood to the heart or to areas in the brain, leading to damage or even the death of the affected tissue. When the blood supply to part of the brain is cut off, a stroke occurs. If the blood supply to the heart is affected, it causes a heart attack. The most common form of thrombosis is a reduction of blood circulation in the legs by a blood clot. The danger here is that, if the clots dissolve, they can move and restrict the blood flow to the brain, the heart or the lungs.

Genetic screening tests for the detection of a risk of thrombosis are unfortunately rarely performed, and since there are no noticeable symptoms until the occurrence of thrombosis, most people do not know that they are genetically predisposed.
Therefore, a genetic predisposition is usually not detected until after the occurrence of thrombosis; this, however, may have fatal consequences. Genetic screening tests are still far too rarely performed, although they will allow one to be aware of the increased risk, and take the necessary preemptive measures, in some cases even allowing him to avoid the disease altogether. Several genes prevent the formation of blood clots in the veins. If one of these genes is defective, it cannot perform its task, and the risk of forming a blood clot increases significantly.
Everyone has two genes of each type, and about one in twenty people carry a defect in at least one gene, thus being a carrier with an approximately 8- fold higher risk of thrombosis than the general population.
About one in 200 people carry an error in both genes of a genotype, and has an 80 -fold higher thrombosis risk. Having defective genes does not necessarily mean the patient will suffer from thrombosis because only a fraction of those affected also develop the disease. Other factors also strongly contribute, such as excessive weight, bed rest and inactivity, prolonged air travel, contraceptive pill, pregnancy, etc.

This is why this genetic testing is so important; if you know your genetic health risk, you can take preemptive measures, and, in most cases, even prevent the occurrence of thrombosis.

Risk of thrombosis during pregnancy

Studies have shown that the risk of thrombosis during pregnancy is 4 – 10 times higher than the risk of non-pregnant women. This risk increases in the months after delivery to 10 – 20 times. What is striking is that most cases occur for young mothers (15-19 years).
Approximately one in twenty women is genetically biased to thrombosis even without pregnancy and has an approximately 8 – 80-fold higher risk of thrombosis than the general population. If a genetically predisposed woman is pregnant, the combination of these two risk factors leads to a dangerous constellation of genetic defect and risk situation, increasing the risk of thrombosis to approximately 60 fold and leading to life-threatening conditions.

It is estimated that thrombosis is responsible for about one-third of deaths in pregnancy, and about 30-60% of women who develop thrombosis are genetically predisposed. Therefore, it is already widely accepted in medicine that genetically predisposed women should take the medication in order to prevent thrombosis during pregnancy. Unfortunately, very few women know about their genetic risk of thrombosis and so a significant percentage of these women remain untreated and unprotected. The treatment consists of the daily administration of low molecular weight heparin, a drug that prevents the formation of blood clots in the veins. Medication needs to be carefully chosen so that it does not get into the bloodstream of the fetus. Under medical supervision, heparin can be given to a mother without harming her child. When used consistently, these drugs ensure that thrombosis is prevented both before and after childbirth.

Risk of thrombosis and hormonal compounds

Hormone compounds are used by many women either in the form of contraceptives or as a treatment for complications caused by the reduction in hormone production after menopause. Although hormones have numerous benefits, they increase the risk of thrombosis. This risk is very small unless there are additional risk factors, such as a genetic predisposition. A genetic predisposition for thrombosis significantly increases the risk; in combination with hormonal preparations, the risk increases approximately 15 times, and in some cases even to more than 80 times. For women with a genetic predisposition to thrombosis, the use of hormone preparations is therefore strongly discouraged since it can lead to life- threatening conditions.

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