Prevalence of thrombophilia and thrombotic events in patients with Fabry disease in a reference center for lysosomal disorders in Southern Brazil
Clin. biomed. res
;
36(1): 23-26, 2016.
Article
in English
| LILACS
| ID: lil-788746
ABSTRACT
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Prothrombin
/
Fabry Disease
/
Venous Thromboembolism
Type of study:
Prevalence study
/
Prognostic study
/
Risk factors
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Clin. biomed. res
Journal subject:
Medicine
Year:
2016
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital de Clinicas de Porto Alegre/BR
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