Vnitr Lek 2022, 68(8):488-492 | DOI: 10.36290/vnl.2022.105

Today's view of hereditary thrombophilia

Jan Kvasnička1, 2, Zuzana Kovářová‑Kudrnová1, Zuzana Zenáhlíková1, Radka Brzežková1, Sylvie Šťastná1, Petra Bobčíková1, Tomáš Kvasnička1
1 Trombotické centrum Ústavu klinické biochemie a laboratorní diagnostiky, Praha
2 1. interní klinika, Všeobecná fakultní nemocnice a 1. lékařská fakulta Univerzity Karlovy, Praha

Venous thromboembolism (VTE) is still a serious medical problem with the non-decreasing incidence of new cases despite prophylaxis in risky situations. It is a multifactorial disease, in which the hereditary component is also significantly involved. The aim of the current research is to search for new polymorphisms that are involved in thrombogenesis in addition to classical thrombophilia (deficiency of natural coagulation inhibitors and FVL and FII prothrombin mutations). The article provides an overview of the results of already performed genome-wide association studies of VTE and their use for the calculation of the so-called polygenic risk score, which could be used for individualized prevention of VTE after standardization of the method.

Keywords: venous thromboembolism, thrombophilia, genome‑wide association studies, polygenic risk score, individualized prevention.

Accepted: December 1, 2022; Published: December 6, 2022  Show citation

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Kvasnička J, Kovářová‑Kudrnová Z, Zenáhlíková Z, Brzežková R, Šťastná S, Bobčíková P, Kvasnička T. Today's view of hereditary thrombophilia. Vnitr Lek. 2022;68(8):488-492. doi: 10.36290/vnl.2022.105.
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