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Thrombophilia, or hypercoagulability, is a disease characterized by increased blood clotting and the formation of clots (most often venous). The clots can theoretically form in any veins, but are most often located in the veins of the legs. Thrombophilia can be congenital or acquired. Its congenital form is the most common cause of venous thromboembolism, which affects over 60 people in Poland every year. Hypercoagulability can lead to a heart attack, stroke, thrombosis. Thrombophilia is especially dangerous in pregnancy as it can cause a miscarriage.
Thrombophilia – symptoms, causes
Congenital thrombophilia it has a genetic background and is most often a consequence of a factor V mutation in the coagulation system or a mutation of the prothrombin 20210A gene.
The factors that may favor the development of this dangerous disease are usually:
- frequent and long trips by plane or car (no traffic for a long time),
- surgical procedures,
- limb immobilized with plaster due to trauma,
- high obesity,
- smoking,
- long-term use of hormonal contraception,
- sedentary lifestyle,
- damage to the blood vessel wall (e.g. trauma).
thrombophilia it can be congenital or acquired. To the causes thrombophilias acquired include:
- immune diseases and systemic diseases of connective tissue – rheumatoid arthritis, lupus erythematosus, dermatomyositis;
- chemotherapy for the following neoplastic diseases – lymphoma, lung cancer, colorectal cancer, leukemia;
- excess homocysteine as a result of an overactive thyroid gland or renal failure;
- infections, inflammations (Crohn’s disease).
As clots most often form in the legs, symptoms such as pain from the knee down, redness or swelling should be of concern. If we notice them at home, see a doctor as soon as possible in order to diagnose hypercoagulability. Untreated thrombophilia can have very serious consequences. If the thrombus breaks away from where it forms and travels to the pulmonary artery, it can lead to embolism and pulmonary infarction, and the displacement of the clot into the cerebral vessels results in a stroke.
In order to confirm or rule out thrombophilia, do Venous thrombosis – study of genetic diseases in different genotypes. The test is available in a mail-order version, so you do not need to come to the laboratory in person. All you need to do is take a sample for testing yourself and send it to Medgen in Warsaw. After 2-4 weeks we will get the results.
Congenital thrombophilia
Congenital thrombophilia results from a mutation of genes (prothrombin, blood coagulation factor V, the so-called V Leiden), which is quite easy to detect with a DNA test. Congenital thrombophilia has a genetic condition, and DNA testing should be ordered to people who lead a sedentary lifestyle, have had a history of thrombosis, have had heart attacks and strokes, women who have problems conceiving, and are taking oral hormonal contraception or use hormone replacement therapy. Treatment thrombophilias congenital disease depends on the doctor’s decision, the patient usually takes anticoagulants to prevent the formation of a blood clot.
Thrombophilia and pregnancy
Because congenital thrombophilia it can have very serious consequences for the mother-to-be, it is better if a woman planning pregnancy carries out appropriate tests and finds out if this problem concerns her. During pregnancy, the blood becomes thicker which further increases the risk of developing a blood clot. As a result, miscarriage, fetal death, detachment of the placenta or pre-eclampsia may occur.
One such genetic test for pregnant women is the mail-order diagnostics of blood coagulation for the Leiden mutation, which you can buy at Medonet Market.