Today's view of hereditary thrombophilia

Vnitr Lek. 2022 Winter;68(8):488-492. doi: 10.36290/vnl.2022.105.

Abstract

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; genome‑wide association studies; individualized prevention; polygenic risk score; thrombophilia; venous thromboembolism.

MeSH terms

  • Factor V / genetics
  • Genome-Wide Association Study
  • Humans
  • Risk Factors
  • Thrombophilia* / genetics
  • Venous Thromboembolism* / genetics
  • Venous Thromboembolism* / prevention & control

Substances

  • Factor V

Supplementary concepts

  • Thrombophilia, hereditary