Efficacy of Family History in Determining Thrombophilia Risk

Abstract 

Study Objective

This retrospective study sought to examine the importance of family history of cardiovascular disease (CVD) or venous thromboembolism (VTE) in predicting risk for an inherited thrombophilia.

Design/Methods

A cohort of 88 adolescent females who had a thrombophilia panel in the last three years was identified for this retrospective chart review. Family history data of CVD or VTE were collected in addition to laboratory results from the thrombophilia screen.

Setting

Adolescent patients who had a thrombophilia screen within the last three years at University OB-GYN Associates, Louisville, KY.

Results

Within the cohort (n=88), 21% of patients were found to have a documented thrombophilia. At least 47% of individuals diagnosed with thrombophilia had more than one screening abnormality. A family history of VTE was noted to have a positive predictive value (PPV) of 40% and a negative predictive value (NPV) of 88% for detection of thrombophilia. Patients with a family history of CVD alone carried a PPV of 24% and NPV of 100%. Finally, among individuals with both family history risk factors, PPV was strengthened at 52% while NPV remained unchanged.

Conclusions

Within the last decade, inherited thrombophilias have gained more clinical interest. While thrombophilia disease prevalence data is available for the adult population, there remains a paucity of data in adolescents. Our results reinforce the importance for screening adolescent females, prior to contraceptive administration, if family history risk factors exist.

Key Words: Thrombophilia risk, DVT, CVD, Family history, MTHFR, Risk factors