Thrombophilia

Prenatal screening Auditory defects Oncogenetics Male fertility Thrombophilia

The hereditary thrombophilia is an inborn inclination to an increased blood sedimentation. This, however, gives the carrier an advantage of a faster bleeding arrest in case of an injury or in a childbirth, but in some situations – for example in pregnancy or in a long term immobilization – the thrombophilic patients have an increased risk of thrombo-embolic disease (TEN). Blood clots are created in their vessels, which can result in a reduction in blood flow to vital organs (e.g. lungs).

Genes of the hereditary thrombophilia are transferred to the offsprings in combinations of various severity, according to the genetic equipment of the parents. So far the most significant known gene causing thrombophilia is the so-called „Leiden mutation“ (FVL), which is received – in most cases from one parent only – by about every twentieth inhabitant of the Czech Republic.

One of the other risk factors of TEN is an accumulation of the amino acid homocysteine in blood, often related to the hereditary deceleration of metabolism of the folic acid (alteration of the gene MTHFR). In case of a long term decrease in the supply of the folic acid and vitamins of the B group, homocysteine damages the cells of the vessel epithelium and makes the formation of blood clots easier.

Measures in case of the hereditary thrombophilia diagnosis:

  • You will learn your genetic finding by heart, similarly to your credit card PIN, but with the difference that you will always report it in every risk situation (immobilization, hormonal treatment, pregnancy, accidents, operation, long-distance travelling, etc.). For these situations, elaborated procedures of blood “dilution” and improvement of vessel properties with heparin, warfarin and other medicaments can be applied.
  • Every organ may follow long-term general preventive rules: sufficient supply of liquids (2.5 litre/day) and movement (3 km of walking/day), tightening of lower limbs in case of long standing, keeping the optimum weight (height –100) and non-smoking.
  • Check regularly the level of homocysteine in blood, similarly to the regular cholesterol checks.