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Efficacy of family history in determining thrombophilia risk

Jennifer E Dietrich1, S Paige Hertweck, Sally E Perlman

  • 1Division of Pediatric and Adolescent Gynecology, Department of Obstetrics, Gynecology and Women's Health, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. jediet01@gwise.louisville.edu

Journal of Pediatric and Adolescent Gynecology
|August 4, 2007
PubMed

Insights

Family history of cardiovascular disease or venous thromboembolism is important for predicting inherited thrombophilia risk in adolescent females. Screening is recommended for those with risk factors before contraceptive use.

Area of Science:

  • Hematology
  • Genetics
  • Adolescent Medicine

Background:

  • Inherited thrombophilias are increasingly recognized in clinical practice.
  • Data on thrombophilia prevalence in adolescents is limited compared to adults.
  • Family history is a key indicator for inherited conditions.

Purpose of the Study:

  • To evaluate the predictive value of family history of cardiovascular disease (CVD) or venous thromboembolism (VTE) for identifying inherited thrombophilia in adolescent females.
  • To highlight the need for adolescent thrombophilia screening.

Main Methods:

  • Retrospective chart review of 88 adolescent females who underwent thrombophilia panel testing.
  • Collection of family history of CVD or VTE and thrombophilia screening results.

Main Results:

  • 21% of the adolescent cohort were diagnosed with thrombophilia.
  • A family history of VTE had a 40% positive predictive value (PPV) and 88% negative predictive value (NPV).
  • Family history of CVD alone had a 24% PPV and 100% NPV; combined risk factors yielded a 52% PPV.

Conclusions:

  • Family history of CVD or VTE is a significant predictor of thrombophilia in adolescent females.
  • Screening adolescent females with a relevant family history is crucial, especially before initiating hormonal contraception.
  • Further research is needed to understand thrombophilia in adolescent populations.
Abstract

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