Background/Purpose: Rheumatoid arthritis (RA) is a chronic, systemic and inflammatory disease. Thromboembolic phenomenas are more frequent in patients with RA than healthy individuals and several hemostatic factors increase in these patients with RA. The knowledge about FV Leiden A1691G, methylenetetrahydrofolate reductase (MTHFR) C677T, and prothrombin G20210A mutation in RA is very limited. We aimed to evaluate the incidence of factor V Leiden A1691G, MTHFR C677T, and prothrombin G20210 mutation in patients with RA.

Methods: Forty-seven patients with RA and 53 healthy individuals as control group are included to the study. The DNA of patients and control group were obtained from blood in tubes with EDTA by using pure polymerase chain kit. Then factor V Leiden A1691G, prothrombin G20210A, and MTHFR C677T mutation were investigated in DNA by using LightCycler-Factor V A1691G, prothrombin G20210A, and MTHFR C677T estimate kits. Yates chi-square and students t test for comparison of groups were used.

Results: The mean age of patients and control groups were 48.8 ±12.2 and 48.8 ± 7.9 years, respectively. There is no history or physical finding of venous thrombosis in patients and control group. The heterozygote FV Leiden A1691G point mutation was estimated in 9 patients with RA (6.3%) and 2 patients (3.7%) in control group (p<0.001). The homozygote FV Leiden and A1691G mutation were not determined among patients and control group. Heterozygote prothrombin G20210A mutation was estimated in 9 patients with RA (15%). There was no heterozygote prothrombin G20210A mutation in control group (p<0.001). Homozygote prothrombin G20210A mutation was not estimated among the patients and the control group. Heterozygote MTHFR C677T mutation was found in 40 patients (85%) with RA while in 13 patients (24%) of the control group (p<0.001). There was no homozygote MTHFR C677T mutation in patients with RA, while homozygote MTHFR C677T mutation was determinated in 2 patients of the control group (p>0.05).

Conclusion: The incidences of heterozygote prothrombin G20210A and MTHFR C677T are higher in patients with RA than healthy individuals. We do not know the importance of heterozygote prothrombin G20210A, and MTHFR C677T in patients with RA. It may be useful to follow up closely in respect of further thromboembolic events in RA patients with heterozygote prothrombin G20210A, and/or MTHFR C677T mutations.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/the-incidence-of-factor-v-leiden-a1691g-methylene-tetrahydrofolate-reductase-c677t-and-prothrombin-g20210a-mutation-in-patients-with-rheumatoid-arthritis/