Inherited thrombophilia and gestational vascular complications

Elvira Grandone, Maurizio Margaglione

Research output: Contribution to journalArticlepeer-review


The most common causes of inherited thrombophilia, the factor V Leiden and the factor II A20210 mutations, confer a higher risk of venous thromboembolism. Moreover, several studies have suggested that they can have a role in the occurrence of gestational vascular complications in otherwise unexplained recurrent fetal losses, hypertensive disorders of pregnancy and fetal growth restriction. Observational and case-control studies addressing these issues are available in literature. However, longitudinal, perspective studies are lacking. Mild hyperhomocysteinaemia can be due partly to inherited susceptibility-as the homozygous carriership of the T677 variant in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR). Case-control studies have been carried out on a possible association between unexplained fetal losses and mild hyperhomocysteinaemia. Although case-control and perspective studies are available on hyperhomocysteinaemia and other gestational vascular complications the data are conflicting. Intervention studies have been carried out to prevent adverse obstetric outcomes in women with factor V Leiden or factor II A20210 mutations and previous adverse outcomes. Although these are not randomized controlled trials, all have found significantly better outcomes in treated pregnancies compared to those of untreated pregnancies in the same women.

Original languageEnglish
Pages (from-to)321-332
Number of pages12
JournalBest Practice and Research: Clinical Haematology
Issue number2
Publication statusPublished - 2003


  • Fetal loss
  • Hyperhomocysteinaemia
  • Pre-eclampsia
  • Pregnancy complications
  • Pregnancy outcome
  • Thrombophilia

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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