Thrombophilia

Thrombophilia is the term used by doctors to describe a disordered system of blood clotting in the body. which increases the risk of thromboses and embolisms. It causes excessive blood clotting (coagulation).

Why is blood clotting important?

Blood clotting is important in preventing hemorrhage when a person is injured and to ensure wound healing – If there is a wound, e.g., due to a cutting injury, it is important to close it, and so blood clotting is activated to enable closing of the wound. If there is no injury, an excessive quantity of anti-clotting factors are present in the bloodstream. These prevent the blood from forming clots without a reason to do so.

What happens in people with thrombophilia?

In people with thrombophilia, the interaction of clot-promoting and clot-inhibiting factors in the blood is out of balance, so that their blood may clot even when this is not necessary. This makes it more likely that blood clots will form and block the blood vessels.

Which type of medical specialist can be consulted?

Specialists in internal medicine, angiology (vascular medicine) or hemostaseology are the correct points of contact for diagnosing and treating blood clotting disorders. 

Many people with thrombophilia have no symptoms.

Frequent thromboses (blood clots) – especially in younger people – may indicate thrombophilia. The most common symptoms are thromboses in the deep veins of the leg or pulmonary embolism.  

Congenital thrombophilia must be considered if thromboses or embolisms occur frequently in family members.

Thrombophilia must also be given due consideration if thromboses and embolisms occur without identifiable triggers or in unusual parts of the body.

What are the typical signs of deep vein thrombosis of the leg and of a pulmonary embolism?

Pains in the muscles or swelling in one leg are typical indicators of deep vein thrombosis of the leg. Other symptoms may also occur, such as muscle tenderness, a feeling of tightness or dark or bluish skin discoloration.

The symptoms of a pulmonary embolism are sudden breathlessness, chest pain, rapid heartbeat, a drop in blood pressure, coughing up blood and fainting (syncope).  

People can be born with thrombophilia or acquire it at some point in their lives.

Congenital thrombophilia

Congenital (inherited) thrombophilia is caused by a change in a person’s genetic material (DNA). The most common types include:

• factor V Leiden mutation
• prothrombin mutation

These two genetic mutations occur in 2 to 5 percent of the population. However, only a small number of these people will actually develop a thrombosis or pulmonary embolism over the course of their lives.

A deficiency in antithrombin, protein C and protein S also increases the risk of thrombosis. All of these are substances that prevent blood clotting. A deficiency may be present at birth or develop later.

Within the general population, these deficiencies are very rare. In people with thromboses, they are found in less than 5 percent of all patients. A severe deficiency in antithrombin, protein C or protein S significantly increases the risk of thrombosis.

Acquired thrombophilia

Acquired thrombophilia occurs in connection with other diseases. For instance, some people may develop antibodies against parts of the blood clotting system. Antiphospholipid antibodies are one example. If this type of antibody is formed, blood clots may develop in the person’s veins or arteries. The risk of miscarriage and premature birth is also elevated.

Often, people with thrombophilia are unaware that they develop more blood clots than normal, as many blood clots simply dissolve naturally on their own. However, sometimes the blood clots disrupt blood flow and cause symptoms.

What happens when blood clots form?

If a blood clot occurs, for example, in the leg veins that run at a deep level between the muscle layers, this impairs the flow of blood from the affected leg towards the heart. As a result, more fluid is retained in the tissues, leading to swelling and pains or feelings of tightness in the affected muscles.

Fresh blood clots may break free and be washed away in the blood stream. They pass through the right side of the heart and into the lungs, where they block blood vessels, leading to a pulmonary embolism. A severe pulmonary embolism may have a fatal outcome. 

If people develop a thrombosis or pulmonary embolism early in life or without an identifiable trigger, congenital thrombophilia must be considered.

An in-depth patient consultation, accompanied by a physical examination, allow potential risk factors to be identified.

When is a specific thrombophilia diagnosis worthwhile?

To determine whether a thrombophilia diagnosis makes sense, the doctor will ask about the extent to which thrombosis occurs in family members. Many people with a thrombosis or a pulmonary embolism report that close relatives have also had thromboses. Congenital thrombophilia may be suspected in this case. This can be confirmed by means of a blood test or genetic testing.

However, this type of blood test is only useful if the results also influence the therapeutic approach. Patients should discuss this with their doctor in advance.

Often, however, it is possible to identify the best therapeutic approach based on the accompanying circumstances, meaning that a blood test is unnecessary. 

If thrombophilia has been diagnosed, physical activity and exercise are effective ways to minimize the risk of developing thromboses.

If the risk of thrombosis is elevated in specific situations, such as after surgery or injuries, anti-clotting medication is often prescribed to prevent thromboses.

Women with an increased risk of thrombosis who use a hormonal contraceptive pill should discuss the option of estrogen-free contraception with their gynecologist. It is now known that this type of contraception does not present a risk of thrombosis.