Thrombophilia is the tendency an individual may have to form a clot (hypercoagulability - blood stasis). The causes of thrombophilia can be acquired or hereditary, but also a combination of the two. A very large set of proteins and antibodies, clotting factors and basic cells such as platelets contribute to blood clotting. Any alteration of these elements defined as acquired causes can create a clotting disorder. Acquired causes include various diseases that result in clot formation such as liver diseases as key proteins synthesised in the liver are affected, cancer, various infections such as hepatitis, diffuse intravascular coagulation and others.

In addition to acquired causes, we also distinguish a large set of inherited genes, i.e. elements with which a person is born. Common genes for hereditary thrombophilia are factor V (Leiden) G1691A,

• Prothrombin mutation G20210A
• Homocysteine gene mutations (MTHFR C677T).

Studies have suggested that 10% of the world's population has an inherited thrombophilia gene, the most common being the Leiden factor V and the Prothrombin G20210A gene mutation.

A thrombotic event does not necessarily have to occur in someone with the gene, but it is more likely than in someone without it. Often what exacerbates the condition is a combination of two or three factors of both hereditary and acquired etiology. The most serious condition of thrombosis is deep vein thrombosis and pulmonary embolism, which requires immediate anticoagulation as it is life-threatening.

A proper laboratory test will give us all the information we need to start treatment and prevent thrombotic events. One notable situation in which thrombophilia testing should be performed is pregnancy. During pregnancy several coagulation factors are increased physiologically and it is advisable to screen for it.

Thrombophilia screening, which does not require the person to be fasting and can be done at any time of the day, includes the following tests:

• General blood count - Platelets PT, aPPT
• Homocysteine - vitamin B12 - folic acid
• Antithrombin III (blood concentration)
• Protein C
• Resistance to activated protein C
• Protein S
• Anti-cardiolipin antibodies (IgG, IgM)
• Antibodies against glycoprotein β2GP-I (IgA, IgG, IgM)
• Anticoagulant lupus factor V mutations (Leiden) G1691A
• Prothrombin mutation G20210A
• Homocysteine gene mutations (MTHFR C677T
• GPIa and GPIIIa mutations
• PAI-1 polymorphisms [4G/5G, G/A (-844 bp)]

Our laboratory performs free home visits.

Contact us for more details and the cost of the test.