Faculty Collaboration Database

Do incident and recurrent venous thromboembolism risks truly differ between heterozygous and homozygous Factor V Leiden carriers? A retrospective cohort study. Eur J Intern Med 2016 May;30:77-81

Date

03/14/2016

Pubmed ID

26970916

DOI

10.1016/j.ejim.2016.02.023

Scopus ID

2-s2.0-84960153818 (requires institutional sign-in at Scopus site)   5 Citations

Abstract

INTRODUCTION: While Factor V Leiden (F5 rs6025 A allele) is a known venous thromboembolism (VTE) risk factor, VTE risk among heterozygous vs. homozygous carriers is uncertain.

MATERIALS AND METHODS: In a retrospective cohort study of Mayo Clinic patients referred for genotyping between 1996 and 2013, we tested Factor V Leiden genotype as a risk factor for incident and recurrent VTE.

RESULTS: Among heterozygous (n=268) and homozygous (n=111) carriers, the prevalence of VTE was 54% and 68%, respectively (p=0.016). While mean patient age at first VTE event (43.9 vs. 42.9years; p=0.70) did not differ significantly, median VTE-free survival was modestly shorter for homozygous carriers (56.8 vs 59.5 years; p=0.04). Sixty-nine (48%) and 31 (42%) heterozygous and homozygous carriers had ≥1 VTE recurrence (p=0.42). In a multivariable model, idiopathic incident VTE and a second thrombophilia were associated with increased and anticoagulation duration >6months with reduced hazards of VTE recurrence; Factor V Leiden genotype was not an independent predictor of recurrence.

CONCLUSIONS: Aside from a higher VTE prevalence and modestly reduced VTE-free survival, VTE penetrance and phenotype severity did not differ significantly among homozygous vs. heterozygous carriers, suggesting that VTE prophylaxis and management should not differ by Factor V Leiden genotype.

Author List

Perez Botero J, Ormsby WD, Ashrani AA, McBane RD 2nd, Wysokinski WE, Patnaik MM, Lewis BR, Grill DE, Pruthi RK, Heit JA

Author

Juliana Perez Botero MD Assistant Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adult
Aged
Factor V
Female
Heterozygote
Homozygote
Humans
Kaplan-Meier Estimate
Male
Middle Aged
Multivariate Analysis
Mutation
Proportional Hazards Models
Recurrence
Retrospective Studies
Risk Factors
Thrombophilia
United States
Venous Thromboembolism
Venous Thrombosis