Nasljedna trombofilija Inherited thrombophilia - Baumgartner, Petra; Valković, Toni (2021)
Pojam trombofilija podrazumijeva nasljedne i/ili stečene poremećaje sustava zgrušavanja krvi koji predisponiraju razvoj tromboze. Nasljedna trombofilija obuhvaća stanja u kojima naslijeđene genetske mutacije dovode do abnormalne količine ili funkcije proteina uključenih u sustav koagulacije, što za posljedicu može imati povećanu sklonost venskim i, znatno rjeđe, arterijskim trombozama. Nedvojbeno definirana nasljedna trombofilna stanja nedostatak su antitrombina, proteina C i proteina S te pojava faktora V Leiden i protrombinskih varijanti. Još uvijek ne postoje jednoznačne preporuke za testiranje nasljedne trombofilije, a profilaksa i liječenje tromboembolijskih događaja moraju biti individualizirani.
The term thrombophilia implies inherited and/or acquired disorders of the hemostasis mechanism that predispose to the development of thrombosis. Inherited thrombophilia includes conditions in which an inherited genetic mutations affect the amount or function of proteins involved in the coagulation system, and as a consequence, an increased tendency to venous and, much less frequently, arterial thrombosis. Undoubtedly defined inherited thrombophilic conditions are the deficiency of antithrombin, protein C and protein S and the appearance of factor V Leiden and rothrombin's variants. There is still no clear recommendation for testing hereditary thrombophilia, and the prophylaxis and the treatment of thromboembolic events must be individualized.
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Sažetak ; Abstract.
Keywords: Nasljedne bolesti -- Trombofilija -- Antitrombin -- Faktor V Leiden -- Protein C -- Protein S