The investigation of hereditary and acquired thrombophilia risk factors in the development of complications in pregnancy in Croatian women

J Matern Fetal Neonatal Med. 2016;29(2):264-9. doi: 10.3109/14767058.2014.998189. Epub 2015 Jan 14.

Abstract

Objectives: To investigate the genetic and acquired thrombophilic risk factors in pregnancy-associated complications and venous thromboembolism (VTE) and evaluate the association between particular thrombophilic risk factors and thromboembolic complications.

Methods: In this study, pregnant women with pregnancy complications and VTE (N = 101) were the study group, and the control group were women with normal pregnancy (N = 102). All women underwent testing for factor V Leiden mutation (FVL), mutation of the coagulation factors II (FII20210), methylenetetrahydrofolate reductase (MTHFR), plasminogen activator inhibitor-1, antithrombin III (ATIII), protein C (PC) and protein S, lupus anticoagulant (LAC) antibodies, anticardiolipin antibodies and anti-beta-2-glycoprotein-1.

Results: In this study group, mutations of the FVL was 15.8% (16/101), FII20210 5.9% (6/101) and the MTHFR at locus 677 was TT in 19.8% (20/101). Deficiency of ATIII and PC were rare: 3.0% and 1.0%, respectively. LAC were significantly higher in the study group than in the control group: 32.7% versus 3.9%; p < 0.0005. Pregnant women with VTE have been more frequent for FVL (41.7%; p < 0.005), PC deficiency (25.0%; p < 0.005) and LAC (33.3%; p < 0.005). Combination of FVL and MTHFR mutation was related to the risk of recurrent fetal death and habitual abortion.

Conclusion: The inherited and the acquired thrombophilic risk factors were found to be up to 10 times more common in the study group than in the control group.

Keywords: Antiphospholipid antibodies; genetic polymorphism; pregnancy complications; thrombophilia.

MeSH terms

  • Adult
  • Antibodies, Anticardiolipin / genetics
  • Blood Coagulation Factor Inhibitors / genetics*
  • Blood Coagulation Factors / genetics*
  • Case-Control Studies
  • Female
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / genetics*
  • Risk Factors
  • Venous Thromboembolism / genetics*
  • Young Adult

Substances

  • Antibodies, Anticardiolipin
  • Blood Coagulation Factor Inhibitors
  • Blood Coagulation Factors
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)