Thrombophilia is a condition that is rarely talked about enough, although it can lead to severe and even life-threatening complications such as deep vein thrombosis, pulmonary embolism, stroke or heart attack. Often the disease remains “invisible” until the first serious incident. At the same time, early recognition of the problem and proper prophylaxis can save lives. What is thrombophilia, which people are most at risk and when can thrombosis be a signal for another serious disease? Dr. Irina Koleva, a medical oncologist at the KOC, tells FACTS – Plovdiv.
- Dr. Koleva, why is it important to talk not only about hemophilia, but also about conditions such as thrombophilia?
- Hemophilia and thrombophilia are two opposite blood clotting disorders. In hemophilia, the problem is insufficient clotting and a tendency to bleed, while in thrombophilia the body has an increased tendency to form blood clots. That is why it is important for society to know about both conditions - because hemostasis disorders can manifest themselves with both hemorrhages and life-threatening thrombotic incidents.
- What is thrombophilia and why does it often remain an underestimated risk?
- Thrombophilia is a condition in which the balance between clotting and clot dissolution is disturbed in the direction of hypercoagulation. This increases the risk of venous and, less commonly, arterial thrombosis. It often remains underappreciated because many people have no symptoms until the first thrombotic episode occurs. Sometimes the first manifestation may be a deep vein thrombosis or pulmonary embolism.
- What are the main differences between the congenital and acquired forms?
- Congenital thrombophilia is due to inherited genetic changes, most often mutations such as Factor V Leiden or prothrombin mutation, as well as deficiencies of antithrombin, protein C and protein S. The acquired form develops during life, the most typical example being antiphospholipid syndrome. It can also be associated with malignant diseases, autoimmune processes, pregnancy, hormone therapy or chronic inflammatory conditions.
- Which patients are most at risk?
- People with a family history of thrombosis, patients with a previous thrombotic incident, pregnant women, women taking estrogen-containing contraceptives or hormone therapy, oncological patients, as well as people undergoing major surgical interventions or prolonged immobilization are at increased risk.
- When can thrombosis be the first signal of a hidden oncological disease?
- Particular attention requires the so-called unprovoked venous thromboembolism - when thrombosis occurs without an obvious triggering factor such as surgery, trauma or immobilization. In such cases, the risk of detecting a hidden malignant disease in the next 6 -12 months is significantly increased. That is why thrombosis is sometimes the first clinical manifestation of an oncological process.
- Is there a connection between cancer and increased blood clotting?
- Tumor cells activate the coagulation system by secreting procoagulant substances, inflammatory mediators and interacting with the vascular endothelium and platelets. This creates a highly prothrombotic environment. The most frequently associated with increased risk are cancers of the pancreas, lung, stomach, brain, ovaries and colon, as well as hematological malignancies.
- What are the most serious complications?
- The most dangerous complications are:
-- deep vein thrombosis;
-- pulmonary embolism;
-- ischemic stroke;
-- myocardial infarction;
-- recurrent thrombotic episodes;
-- postthrombotic syndrome;
-- chronic thromboembolic pulmonary hypertension.
Pulmonary embolism remains one of the most serious and potentially fatal complications.
- What role do pregnancy, surgery and immobilization play, why are they risky?
- These conditions are powerful provoking factors. Pregnancy physiologically increases coagulation potential as a protective mechanism against blood loss during childbirth. Surgeries lead to tissue damage and temporary activation of coagulation. Prolonged immobilization slows venous blood flow, which facilitates the formation of thrombi. In the presence of underlying thrombophilia, the risk increases many times over.
- What are the most important steps for early diagnosis and prevention?
- First and foremost is the individual risk assessment. Thrombophilia should be suspected in young patients with thrombosis, in recurrent incidents, in thromboses in unusual locations or in cases of strong family history. It is important to emphasize that testing for thrombophilia is not necessary in every patient, but should be targeted and clinically justified.
- How can patients reduce their risk?
- Prevention includes:
-- maintaining good physical activity;
-- avoiding prolonged immobility;
-- adequate hydration;
-- body weight control;
-- quitting smoking;
-- careful use of hormonal preparations;
-- strict adherence to prescribed antithrombotic prophylaxis during surgery, pregnancy or oncological treatment;
Awareness is key. The earlier the risk is recognized, the more effectively we can prevent serious complications.