In line with its mission, the Editorial Board of MedTvoiLokony makes every effort to provide reliable medical content supported by the latest scientific knowledge. The additional flag “Checked Content” indicates that the article has been reviewed by or written directly by a physician. This two-step verification: a medical journalist and a doctor allows us to provide the highest quality content in line with current medical knowledge.
Our commitment in this area has been appreciated, among others, by by the Association of Journalists for Health, which awarded the Editorial Board of MedTvoiLokony with the honorary title of the Great Educator.
Women who use hormone therapies should check for a genetic condition to develop thrombosis. Long-term use of hormones significantly increases the risk of this disease.
In the population, on average, 1 in 1000 people have problems with deep vein thrombosis. If, however, hereditary and environmental factors (taking medication, lifestyle) combine, the risk increases dramatically and may affect up to 100 women out of 1000.
A typical symptom of deep vein thrombosis is pain and swelling in the extremities. Sometimes it is accompanied by redness or bruising of the affected areas. When the clot breaks off and reaches the lungs with the bloodstream, an extremely dangerous pulmonary embolism can occur. The first symptoms are shortness of breath, difficulty breathing, and a condition similar to a heart attack.
The presence of thromboembolism or a predisposition to it also increases the risk of stroke (when the clot reaches the brain), heart attack (the clot reaches the heart) and spontaneous miscarriage of pregnancies in the second and third trimesters (when blood clots appear in the placenta, they cause its dying off and, as a result, a miscarriage).
Therefore, it is worth counteracting thrombosis by taking preventive measures. The first step is genetic testing.
Sensitive genes
It is estimated that 20-30 percent. cases of thromboembolism are associated with the presence of a genetic predisposition to its development (the so-called congenital thrombophilia). In familial thrombosis for 60 percent. two mutations correspond to cases of the disease:
– mutation of the F5 gene, i.e. factor V of the blood coagulation system, called the “Leiden mutation”
– mutation of the F2 gene, i.e. the prothrombin gene.
Doctors also suspect (although it is not statistically justified) that a mutation in the MTHFE gene may be responsible for some cases of thrombosis. Testing of this gene should be performed only as an additional one when diagnosing the first two genes.
When a doctor orders the tests, they are reimbursed. If you want to check if you are not mutation carriers, you have to pay: approx. PLN 250 (F5 gene test), approx. PLN 320 (F5 + F2 gene test), approx. PLN 550 (F5 + F2 + MTHFE).
Watch out for hormones
Hereditary blood clotting disorders can lead to thrombosis at a very young age. Women undergoing long-term hormone therapy are at risk, especially those who use hormonal contraception for a long time. This applies primarily to those products that contain estrogens.
It has also long been suspected that the use of certain forms of hormone replacement therapy to alleviate the effects of menopause and prevent osteoporosis may, in some cases, lead to venous thrombotic disease. This has been confirmed in clinical trials. Here, too, it is about the unfavorable effect of estrogens.
Women with mutations in the F5 and F2 genes (i.e. diagnosed with congenital thrombophilia), who plan to enlarge their family or are already pregnant, should also be given special care. With such a genetic burden, they are at risk of spontaneous miscarriage, mainly in the second half of pregnancy. This can be prevented by taking low-dose anticoagulants (under close medical supervision) to prevent miscarriage and fetal death. Repeated miscarriages are increasingly prompting doctors to refer patients for genetic testing for thrombophilia.
Also people after injuries and operations must remember to strictly follow the doctor’s instructions and consistently take anticoagulants after the procedure. This is especially important for those people who carry mutations in the F5 and F2 genes.
Movement even while still
Lifestyle significantly influences the risk of developing thromboembolism – mainly smoking, obesity and lack of physical activity. This disease is sometimes called the disease of travelers, because it affects people who often use planes, trains, cars and spend many hours motionless in them. In order to prevent such problems, you need to remember to move around even when you are traveling – make frequent stops when driving a car, and walk along the corridor on a train or plane and move your feet. You can also take small doses of acetylsalicylic acid (75 mg / day) before the trip.
Due to the lack of physical activity and the obesity epidemic, which experts say, veno-thrombotic events are becoming more frequent and earlier, even in children. In some highly developed countries, venous thromboembolism with its complications, including the most dangerous – pulmonary embolism – is becoming the most common cause of death.
Tekst: Zuzanna Matyjek
Consultation: dr n. Med. Monika Jurkowska, dr n. med. Krystyna Spodar, NZOZ Genomed