Leiden mutation

The Leiden mutation (also known as Factor V Leiden) is a congenital hereditary disorder of blood clotting, i.e., of the coagulation system. As a result of this disorder, there is an increased tendency to form blood clots (thrombi), and it can therefore be described as a thrombophilic state. The direct consequence of the genetic mutation is resistance of factor V to the anticoagulant activity of activated protein C (APC). The Leiden mutation was discovered in 1993 by Dutch and Swedish scientists.

It is the most common inherited predisposition to thrombophilia in the Eurasian population. In some regions, up to 15% of the population carry this mutation. The Leiden factor mutation should be considered in cases of recurrent thromboses, especially when thromboses occur without other risk factors (such as trauma or patient immobility, or the presence of other diseases), when thromboses appear in young individuals, or when they occur in atypical locations (in large vessels, in major vascular territories). It should also be considered in cases of recurrent miscarriages in women, or in women using hormonal contraception combined with smoking — since even this combination alone presents a significant risk. Gynecologists prescribing hormonal contraception to women should test the blood for the presence of the Leiden factor mutation beforehand, because contraception would be contraindicated in such cases.

Treatment

The Leiden mutation cannot be cured; it is a congenital, genetically determined disorder. Genetic and hematological testing of other family members is necessary. Preventive measures are important (e.g., occasional exercises to maintain blood circulation during long travel or immobility, healthy lifestyle, etc.). Anticoagulant therapy (heparin, warfarin) may be administered — however, the risks of lifelong anticoagulation are higher than in untreated carriers of the Leiden mutation without a previous episode of thromboembolism (consultation with a hematologist is recommended).

• zvýšené riziko komplikácií súvisiacich s trombotickými uzáverymi v cievnom riečisku - vznik infarktu tkaniva
• zvýšené riziko infarktu myokardu
• zvýšené riziko cievnej mozgovej príhody
• riziko vzniku predovšetkým hlbokej žilovej trombózy dolných končatín
• bolesť a opuch nohy -pri trombóze
• pozitívne Homansove znamenia (bolestivosť lýtka pri dorzálnej flexii nohy)
• Prattovej strážne žily - rozšírenie povrchových žíl na prednej strane predkolenia
• častejšie spontánne potraty
• častejšie rozvoj preeklampsie (zvýšený krvný tlak a bielkoviny v moči počas tehotenstva)
• častejšie pôrod plodu s nízkou pôrodnou hmotnosťou
• častejšie abrupcia placenty (predčasné odlúčenie)
• ako komplikácia rozvoj pľúcna embólia - náhly kašeľ, bolesť na hrudníku, sťažené dýchanie
• vznik trombózy na atypických miestach a v mladom veku, aj bez vzniku rizikových faktorov
• opakované trombózy s/bez rizikových faktorov