Uncover the hidden risk of thrombophilia

Thrombophilia is a tendency for increased blood clotting, which is influenced by both innate dispositions and external influences (e.g. exercising, weight, smoking, injury, medications).

It carries an increased risk of blood clots (thrombi). Part of the clot can then be released from vessel wall, travel through the venous system and, after passing through the heart, block one of the pulmonary vessels, which leads to a so-called pulmonary embolism.

Thrombophilia and pregnancy

Placental thrombosis can occur during pregnancy, leading to complications:

• premature birth

• fetal growth retardation

• placental abruption

• preeclampsia

• early and late pregnancy losses

When should I undergo an examination?

• if you are taking or plan to take hormonal contraception or hormone replacement therapy

• you or your close family member has had a thrombosis or pulmonary embolism, myocardial infarction or

  stroke at a young age

• you have had any of the complications listed

  above during pregnancy

Knowing your innate predisposition to blood clotting can help you not only during the reproductive period of life, but also during surgery, long-term immobilization, or treatment of chronic diseases.

What is the subject of the examination?

The genetic test focuses on the four most common thrombophilic mutations that are involved in the blood clotting process:

The discovery of a mutation means an increased innate predisposition to blood clotting and it is necessary to implement certain preventive measures.

What are my risks if I am mutation carrier?

The presence of an inherited thrombophilic mutation represents a 3–5x higher risk of developing deep vein thrombosis compared to the general population (which does not mean that every carrier will be affected by thrombosis). Its development usually occurs due to the interaction of other, external influences, such as:

• pregnancy and puerperium

• use of hormonal contraception or treatment with sex hormones (contraindicated in homozygotes of thrombophilic mutations)

• presence of mutations in other genes associated with blood clotting

• oncological diseases and their treatment

• atherosclerosis and other cardiovascular diseases

• autoimmune diseases (e.g. antibodies to phospholipids)

• abdominal and orthopedic surgeries

• injuries and prolonged immobilization

• long flights

• age over 45

• obesity, smoking, alcohol abuse

• loss or insufficient water intake (dehydration)

How are mutations inherited?

Thrombophilic mutations are transmitted from generation to generation. This is a so-called autosomal dominant inheritance. A heterozygote (carrier of one mutated allele) has a 50% risk of passing the mutation on to their children, a homozygote (carrier of two alleles of the same mutation) will always pass the mutation on to their children.

How can I prevent thrombosis?

• The key element for preventing and minimizing the problems associated with thrombosis is knowledge of genetic predisposition

• if the risk is proven, you can adjust your diet and lifestyle

• include enough exercise

• intake of appropriate fluids

• follow the principles of rational nutrition

• maintain optimal body weight

• do not smoke

Thanks to these basic measures, you can significantly reduce the risk of thrombosis. At the same time, hematological monitoring is provided, in possibly high-risk situations - for example, during pregnancy or before a long flight.

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