Factor V Leiden mutation in patients with polyarthralgia – case reports and review of literature

Patients with rheumatological diseases might be at increased risk of venous thromboembolism (VTE) because of inflammation, autoimmune disturbances, prolonged immobilization, and corticosteroid (CS) use. Therefore, more efforts are needed to identify additional prothrombotic factors and provide preventive strategies. Herein, we presented two cases of young men with polyarthralgia who have undergone unprovoked VTE. The first patient underwent VTE after several intra-articular CS applications, while the other had no concomitant risk factors. The hereditary thrombophilia testing revealed a heterozygous Factor V Leiden (FVL) state in the first patient and homozygous FVL carrier status in the second patient. Both cases suggest a possible benefit of thrombophilia testing in men under the age of 50 years with polyarthralgia, unprovoked VTE, and impending CS therapy. Estimating the complex thrombotic risk in rheumatological patients before CS use is crucial for preventing thromboses.