Vascular behcet and mutations in thrombogenic genes: Methylene tetrahydrofolate reductase, factor V, and prothrombin

Efrat Dagan*, Yoav Baruch, Massimo Fiorilli, Michael Rozenbaum, Itzhak Rosner, Ruth Gershoni-Baruch

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Vasculitis, thrombophlebitis, arterial aneurysms, and occlusions occur in about 25% of patients with Behçet's disease (BD). The common inherited gene defects, factor V (FV) 1691A (Leiden), methylene tetrahydrofolate reductase (MTHFR) 677T, and prothrombin 20210A, are known risk factors for thrombosis. The aim of the study was to evaluate the contribution of these mutations to thrombosis in Israeli patients with BD. Fifty-four patients with BD (n=54; 27 men and 27 women) underwent clinical and genetic evaluation. Most patients (n=43; 79.6%) were of Arab descent (31 sporadic and 12 familial cases from 4 families), and 11 patients (20.4%) were of Jewish descent (all sporadic cases). The FV Leiden mutation was identified in five patients (9.2%), and eight patients were MTHFR 677TT homozygotes (14.8%). None had the 20210A mutant prothrombin allele. No statistical differences between carriers and noncarriers with regards to demographic and disease manifestations were calculated. Arabs were diagnosed earlier than Jewish patients (25.8±11.6 compared with 37.2±10.7, p=0.01, respectively), but Jewish patients had, respectively, more events of deep vein thrombosis (DVT) compared with Arabs (3 of 11, 27.3% and 3 of 43, 7%, p=0.09). Thrombotic events in our patients with BD were not associated with variations in thrombophilic genes.

Original languageEnglish
Pages (from-to)30-35
Number of pages6
JournalGenetic Testing and Molecular Biomarkers
Volume16
Issue number1
DOIs
StatePublished - 1 Jan 2012
Externally publishedYes

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