What is thrombophilia and why it is important not to neglect it

What is thrombophilia and why it is important not to neglect it

Publication date: 21-06-2024

Updated on: 24-06-2024


Estimated reading time: 1 min

There are genetic and acquired diseases that can increase blood clotting. These include thrombophilia, also known as hyper-coagulability or pro-thrombotic state, an alteration in normal blood clotting that leads to an increased chance of thrombosis.

Together with Prof. Fouad Kanso, Head of the Laboratory at the Istituti Clinici Bresciani and associate professor of Hematology at the Vita-Salute San Raffaele University, we will discuss the nature of the disease, what it stems from, it's symptoms and available treatments.

Genetic thrombophilia

Genetic thrombophilia is inherited from a parent, and the reasons can be numerous: 

  • Leiden factor 5 mutation
  • prothrombin (factor II) mutation
  • antithrombin III deficiency
  • protein C and protein S deficiency
  • MTHFR gene mutation
  • antithrombin III deficiency
  • factor XIII mutation and familial dysfibrinogenemia (a medical condition that causes a reduction in the amount of fibrinogen in the blood)

Acquired thrombophilia

Acquired thrombophilia, on the other hand, may depend not only on specific diseases, but also on particular environmental factors and conditions.

“The diseases that certainly contribute to its occurrence are:

Pregnancy, obesity, use of the contraceptive pills, smoking habits and prolonged immobilization, such as that which one may be forced to after surgery, also play a significant role," Prof. Kanso explains.

Risks of thrombophilia and associated symptoms

Thrombophilia is a disease that should not be overlooked because the consequences it can trigger are dangerous. 

“The most common, for example, is deep vein thrombosis, which is the formation of blood clots in the veins closest to the bones, particularly those in the legs and, secondarily, those in the arms. This condition, which is often accompanied by edema, heaviness, and increased temperature in the area where the thrombus is located, causes intense pain that tends to worsen with movement of the limb.

In severe cases, the thrombus fragments that break off from where they formed can give rise to an embolus that, by partially or completely obstructing one or more branches of the pulmonary artery, can promote a pulmonary embolism.” 

This is a serious consequence involving significant breathlessness, lowered blood pressure, increased heart and respiratory rates, and chest pains aggravated by coughing and bleeding.

“It can even lead to loss of consciousness, with the skin taking on a bluish tint,” Prof. Kanso explains. 

The situation also worsens when the thrombus detaches from the walls of the blood vessel where it has formed and enters the arterial circulation because this can lead to stroke or myocardial infarction.

How the diagnosis takes place?

As long as thrombophilia does not give rise to a deep thrombosis, discovering that you suffer from this disease is far from a given. Having a mostly asymptomatic course, in fact, those who suffer from it are not aware of having it.

“To diagnose it, an echocolordoppler, as well as a blood draw to measure numerous parameters (thrombophilic screening), will be sufficient. Once thrombosis is established, depending on the severity, treatment may or may not be prescribed,” adds Prof. Kanso. 


“Therapy,” the specialist continues, “is based on the administration of anticoagulants. The new generation ones are very convenient to use, as they have a standard dosage, whereas to determine the dosage of the “old” anticoagulants, it is necessary to undergo a blood draw periodically.” 

The role of physical activity and nutrition

Physical activity helps prevent the most serious consequences of this disease. It is useful for both preventing and treating deep vein thrombosis. Running, walking, or any aerobic sports activity promotes blood circulation and the return of venous blood to the heart, thus preventing it from stagnating, clotting, and forming dangerous thrombi. 

Following a proper diet and maintaining one's ideal fitness weight are also of great help: obese and overweight people are more likely to be at this kind of risk.

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