Introduction: Venous thromboembolism (VTE) is a multifactorial
genetic disorder that occurs in approximately one in a thousand
adults per year. Because there is no
laboratory test or
clinical marker useful for predicting which
patients with
Fabry disease may develop thrombotic events, this study aimed to determine whether there is a hereditary predisposition to hypercoagulation in these
patients .
Methods: The
prevalence of p.R506Q
mutation in the
factor V gene and of c.G20210A
mutation in
Factor II (
prothrombin )
gene was evaluated in 39
patients with
Fabry disease from Southern
Brazil and correlated with clinical findings. The
DNA analysis was performed by
real-time polymerase chain reaction on genomic
DNA using TaqMan probes.
Results: In this group of
patients , the frequency of
mutation in the
prothrombin gene was 1.28%, whereas no
patient showed
mutation in the
factor V gene ; additionally, there was no correlation between these
mutations and the
incidence of thrombotic events.
Conclusion: Hereditary
thrombophilia due to
mutations in
factor V and
prothrombin genes does not seem to be related to thrombotic events in Fabry
patients in our cohort, although studies in larger cohorts and the inclusion of additional factors may be required to determine if a correlation exists.