Trombofilija – sklonost za nastanak tromboze

master's thesis

• Title (english): Thrombophilia – tendency for developing thrombosis
• Author: Petra Nežić
• Mentor: Dražen Pulanić (mentor)
• Committee member: Ana Boban (predsjednik povjerenstva)
• Committee member: Martina Lovrić Benčić (član povjerenstva)
• Committee member: Dražen Pulanić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2024-07-12, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Trombofilija je stanje povećane sklonosti za nastanak krvnih ugrušaka. Trombofilije se dijele na nasljedne i stečene. Nasljedna trombofilija najčešće nastaje zbog pojačane aktivnosti faktora zgrušavanja ili zbog smanjene aktivnosti inhibitora sustava zgrušavanja krvi. U nasljedne trombofilije s povišenom aktivnosti faktora koagulacije pripadaju mutacija faktor V Leiden (FVL) te mutacija gena za protrombin (FII20210A). U nasljedne trombofilije nastale zbog smanjene razine ili gubitka aktivnosti inhibitora koagulacije pripadaju nedostaci antitrombina, proteina C i proteina S. Stečene trombofilije nastaju zbog stanja u kojem je prisutna hiperkoagulabilnost, te se u njih ubrajaju brojne bolesti i stanja (antifosfolipidni sindrom, druge autoimunosne bolesti, maligne bolesti, debljina, trudnoća). Čimbenici koji dodatno doprinose hiperkoagulabilnosti su pušenje, starija životna dob te uzimanje nekih lijekova. Proces koji dovodi do stvaranja tromboze (Wirchovljev trijas) obuhvaća ozljedu endotela krvne žile, stazu krvi i hiperkoagulabilnost. Trombofilija je jedna od sastavnica koje uvećavaju rizik za nastanak tromboze. U ovom radu opisat će se najčešće trombofilije, te smisao testiranja na trombofiliju u određenim indikacijama, kako bi se spriječile tromboembolijske komplikacije i uvela ili promijenila odgovarajuća terapija.

Abstract (english)

Thrombophilia is a state of increased tendency for the formation of blood clots. Thrombophilias are divided into hereditary and acquired. Hereditary thrombophilia is most often caused by increased activity of clotting factors or decreased activity of the blood clotting system. Factor V Leiden (FVL) mutation and mutation of the gene of prothrombin (FII20210A) belong to hereditary thrombophilias with increased coagulation factor activity. Deficiences of antithrombin, protein C and protein S belong to hereditary thrombophilias caused by reduced level or loss of coagulation inhibitors activity. Acquired thrombophilias are caused by conditions in which hypercoagulability is present, and they include various diseases and conditions (antiphospholipid syndrome, other autoimmune diseases, malignant diseases, obesity, pregnancy). Factors that contribute to hypercoagulability are smoking, older age and taking certain medications. The process which leads to the development of thrombosis (Wirchov's triad) includes injury to the endotelium of the blood vessel, blood stasis and hypercoagulability. Thrombophilia is one of the components that increase the risk of thrombosis. In this work, the most common thrombophilias will be described, and the reason of testing for thrombophilia in certain indications in order to prevent thromboembolic complications, and to start or change appropriate therapy.

• Keywords: tromboza; trombofilija; mutacija; faktori koagulacije; hiperkoagulabilnost
• Keywords (english): thrombosis; thrombophilia; mutation; clotting factors; hypercoagulability
• Language: croatian
• URN:NBN: urn:nbn:hr:105:857890
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2024-07-02 18:15:38