Inherited thrombophilias

Obstet Gynecol Clin North Am. 2006 Sep;33(3):357-74. doi: 10.1016/j.ogc.2006.05.011.

Abstract

Many inherited thrombophilias have been detected and the pathophysiologic insight has increased tremendously during the last decades. Despite, however, the overwhelming observational evidence on the association between inherited thrombophilia and several women's health issues, including VTE, thus far the implications for clinical practice are uncertain. Although there is firm epidemiologic evidence that is helpful in counseling women who have inherited thrombophilia to prevent a first or recurrent VTE, the uncertainty is particularly present for women who have other pregnancy complications, such as recurrent pregnancy loss and pre-eclampsia. For this group, well-designed placebo-controlled trials to assess the harm-benefit ratio are urgently needed.

Publication types

  • Review

MeSH terms

  • Abortion, Habitual / etiology
  • Abortion, Habitual / prevention & control
  • Female
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Mutation
  • Pregnancy
  • Pregnancy Complications, Hematologic
  • Thrombophilia / classification
  • Thrombophilia / epidemiology
  • Thrombophilia / genetics*
  • Thrombophilia / physiopathology
  • Venous Thrombosis / prevention & control

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)