SM Clinic

Thrombophilia: what is this disease and how to treat it?

Thrombophilia is the most common type of coagulation disorder (blood clotting), characterized by the body’s predisposition to the formation of blood clots. The disease is the main cause of deep vein thrombosis, heart attack, stroke and other life-threatening pathologies.

Normally, thrombosis occurs when the vascular wall is damaged. Its task is to ensure the safety of the vascular system, preventing blood loss at the site of damage. However, excessive thrombosis signals pathological thrombosis that interferes with normal blood flow.

Causes of thrombophilia

Thrombophilia is categorized into:

  • Congenital (primary, hereditary). Congenital thrombophilia is caused by an abnormality of genes responsible for blood clotting function. It develops in the following conditions: protein C and S deficiency, antithrombin deficiency, Leiden mutation, protein mutation.
  • Acquired (secondary). Occurs against the background of taking various medications or diseases such as: antiphospholipid syndrome, myeloproliferative diseases, diabetes mellitus, obesity, heart failure.

In addition, the risk of developing thrombophilia increases with sedentary lifestyle, smoking, pregnancy, after trauma and surgery.

Symptoms of thrombophilia

The main insidiousness of thrombophilia lies in its asymptomatic course. In the early stages, a person is not bothered by anything, and he can live for a long time without knowing about the presence of a dangerous disease. Often a vivid clinical picture appears only when the disease manifests itself in an acute form in the form of thrombosis or other vascular diseases.

Old woman's aching legs

Symptoms of thrombophilia depend on the location of the thrombus, the stage of circulatory disorders and the presence of concomitant pathologies. First of all, the patient is bothered by:

  • swelling, pain in the area of thrombus formation (in deep vein thrombosis);
  • presence of seals and redness of the skin near them (in superficial vein thrombosis).

If not treated in a timely manner, the following symptoms may occur:

  • numbness in the extremities;
  • chest pain;
  • palpitations;
  • heart attacks;
  • complicated pregnancies;
  • repeated miscarriages.

Thrombosis is an extremely dangerous phenomenon, often leading to thromboembolism (clot breakage). In this case, the detached part of the thrombus travels through the veins, entering the right ventricle of the heart and then the pulmonary arteries. In this situation, hemodynamics is disturbed and heart failure occurs. According to statistics, this complication is in third place in the structure of causes of mortality (after heart attacks and strokes).

For this reason, if any of these symptoms are detected, you should immediately contact a qualified specialist.

Diagnosis

When diagnosing the disease, a hematologist first of all conducts an interview and collects anamnesis from the patient, to clarify the hereditary predisposition, and also to confirm the diagnosis, a number of laboratory and instrumental studies are prescribed:

  • general and biochemical blood tests;
  • genetic tests;
  • vascular ultrasound;
  • Dopplerography;
  • CT, MRI.

Treatment of thrombophilia

Treatment is selected individually, depending on the severity of thrombophilia and the presence or absence of comorbidities. A distinction is made between preventive therapy, aimed at preventing the development of blood clots, and treatment aimed at eliminating blood clots and thrombotic complications.

An athlete running up the stairs

To prevent thrombosis and other diseases arising from blood clotting, the patient is recommended:

  • Observe diet. With a tendency to increase thrombosis should limit fatty, fried and spicy food, as well as foods that contribute to blood clotting – fatty meat, rich broths, whole milk, etc., and to keep an active lifestyle.
  • Lead an active lifestyle. The risk group for thrombophilia includes sedentary people and workers in “sedentary” professions (office workers, drivers).
  • Have regular preventive check-ups.

Depending on the severity of the disease, treatment can be conservative or surgical.

In the presence of life-threatening blood clots, surgical treatment is recommended to the patient. Doctors give preference to minimally invasive surgical methods:

  • laser photocoagulation;
  • sclerotherapy.

Prevention of thrombophilia

Preventing the development of thrombophilia is especially important for people at risk. Basic preventive measures include:

  • Weight control – obesity increases stress on the cardiovascular system and promotes blood clots.
  • Physical activity – regular exercise such as walking, swimming and yoga improves circulation and reduces the risk of blood stasis.
  • Adequate drinking habits – adequate water intake helps prevent blood clots.
  • Quitting bad habits – smoking and alcohol abuse have a negative impact on the blood vessels.
  • Control of cholesterol and blood sugar levels – especially important for people with diabetes and cardiovascular disease.

New therapies

Modern medicine is actively exploring innovative therapies for thrombophilia, including:

  • Gene therapy aimed at correcting defects in the blood coagulation system
  • Development of new anticoagulants with high efficacy and minimal side effects
  • Application of biotechnologies, such as cell therapy, to repair damaged blood vessels

Thrombophilia is a serious disease that requires a careful approach to diagnosis, treatment and prevention. Compliance with medical recommendations and a healthy lifestyle will help to reduce the risk of complications and preserve the health of the vascular system.

Conclusion

Thrombophilia is a disease that can be asymptomatic for a long time, but in the absence of timely diagnosis and treatment leads to serious complications. Deep venous thromboses, heart attacks, strokes and thromboembolism can pose a threat to the life of the patient.

However, thanks to modern diagnostic methods, timely prevention and individualized treatment, the risk of complications can be significantly reduced. Following the doctor’s recommendations, leading a healthy lifestyle and regular medical examinations will help to control the state of the blood coagulation system and avoid severe consequences.

Thrombophilia is not a verdict, but a condition that requires a competent approach and constant monitoring. Careful attitude to your health is the key to longevity and good health.

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