Thrombophilia

What is thrombophilia?

Thrombophilia is defined as a condition in which the blood clots very easily (thrombus formation) or in which clots form, but do not dissolve normally. This abnormality affects approximately 50% of people who have already had an episode of thrombosis. Thrombophilia is distinguished as congenital (inherited from parents and present from birth) and acquired (the most widespread, appearing after birth).

Thrombophilia is defined as a condition in which the blood clots too easily.

Symptoms of thrombophilia

The main symptoms of thrombophilia are:

  • Swelling and tightness in the legs
  • Chest pain when taking deep breaths
  • Alteration of skin color
  • Presence of superficial venous circulation in the extremities

Diagnosis of thrombophilia

The test for the diagnosis of thrombophilia is the echocolordoppler which evaluates blood flow movements using a probe that uses the Doppler effect and highlights suspicious variations that could correspond to a thrombus. Echocolordoppler is a non-invasive test with few contraindications; for these reasons, it can be repeated even after a short time to keep the blood flow under control.

What are the causes of thrombophilia?

The causes of thrombophilia can be congenital or acquired, depending on the type of thrombophilia:

  • Organism genetically predisposed to develop blood clots in blood vessels (congenital).
  • Malignant neoplasms (acquired)
  • Heart disease (acquired)
  • Blood diseases (acquired)
  • Collagenopathies (acquired)
  • Nephrotic syndromes (acquired)
  • Paralysis of the lower extremities (acquired)
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Is it preventable?

Thrombophilia can be prevented by taking care of one’s health by adopting a healthy lifestyle and adequate screening for cardiovascular pathologies, especially for those who have had recurrent episodes of thrombosis, unexplained neonatal thrombosis, arterial thrombosis before the age of 30, thrombosis in the family or repeated miscarriages.

Treatments for thrombophilia

The main treatment for thrombophilia is a therapy based on oral anticoagulants that block thrombus formation and control the status of existing thrombi. When anticoagulant-based therapy is started, periodic blood tests (prothrombin and thromboplastin time) have to be performed to check how the blood clots and to see if the patient is taking the correct drugs.

Which specialist should be consulted?

In the case of thrombophilia, it is advisable to consult a hematology specialist.