Manuscript handled by: F. R. Rosendaal
Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles-NImes prediction model
Article first published online: 7 FEB 2014
© 2013 International Society on Thrombosis and Haemostasis
Journal of Thrombosis and Haemostasis
Volume 12, Issue 2, pages 138–146, February 2014
How to Cite
Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles-NImes prediction model. J Thromb Haemost 2014; 12: 138–46., , , , , , , , , .
Final decision: F. R. Rosendaal, 24 November 2013
- Issue published online: 7 FEB 2014
- Article first published online: 7 FEB 2014
- Accepted manuscript online: 4 DEC 2013 12:13AM EST
- Manuscript Received: 27 MAY 2013
- Programme Hospitalier de Recherche Clinique. Grant Numbers: PHRC 2003, AORC 2012
- evidence-based medicine;
- risk assessment;
- single nucleotide, polymorphism;
- venous thrombosis
Although predicting the risk of venous thrombosis (VT) in an individual from a family with inherited thrombophilia is of major importance, it is often not feasible.
To develop a simple risk assessment model that improves prediction of the risk of VT for individuals of families with inherited thrombophilia.
1201 relatives from 430 families with inherited thrombophilia (deficiencies of antithrombin, protein C or protein S, and the factor V Leiden and F2 20210A mutations) were recruited at the referral center for thrombophilia in Marseilles, France, from 1986 to 2008. One hundred and twenty-two individuals had a personal history of VT. Sixteen preselected clinical and laboratory variables were used to derive the VT risk score.
The scores based on the 16 variables and on the five most strongly associated variables performed similarly (areas under receiver operating characteristic curves of 0.85 and 0.83, respectively). For the five-variable score, named the MARNI score, derived from family history score of VT, von Willebrand factor antigen levels, age, severity of thrombophilia, and FGG rs2066865, the risk of VT ranged from 0.2% for individuals with a score of 0 (n = 186) to > 70% for individuals with a score of ≥ 7 (n = 27). The model was validated with an internal bootstrap method.
With the use of a simple scoring system, assessment of the risk of VT in subjects from families with inherited thrombophilia can be greatly improved. External validation is now needed to replicate these findings.