Highlights
- •Homozygotes studied had higher VTE prevalence and modestly lower VTE-free survival.
- •VTE penetrance and phenotype severity, however, did not differ between both genotypes.
- •Our findings suggest VTE management should not differ by Factor V Leiden genotype.
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. 42.9 years; 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 >6 months 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.
Abbreviations:
APC (Activated protein C), FVa (Factor FVa), PCR (Polymerase chain reaction), PE (Pulmonary embolism), VTE (Venous thromboembolism)Keywords
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Article info
Publication history
Published online: March 09, 2016
Accepted:
February 23,
2016
Received in revised form:
February 19,
2016
Received:
January 6,
2016
Identification
Copyright
© 2016 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.
