Abstract
BACKGROUND: Thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or acquired. Hereditary thrombophilia may arise from various gene mutations, some of which have not even been adequately reported or poorly understood. Previous studies reported a rare and novel missense mutation in the prothrombin gene (p.Arg596Gln), known as prothrombin Belgrade. The mechanisms and therapeutic strategies associated with prothrombin Belgrade mutation have not been fully elucidated. CASE SUMMARY: We present the case of a 26-year-old woman with recurrent systemic thrombosis induced by prothrombin Belgrade mutation. The patient suffered from cerebral venous sinus thrombosis that rapidly progressed to systemic thrombosis, alongside a family history of cerebral thrombosis, and no traditional risk factors or abnormal coagulation function. Whole-genome sequencing detected a novel and rare heterozygous prothrombin missense mutation, c.1787G>T (p.Arg596Gln), which was responsible for the major etiology of the systemic thrombosis. CONCLUSION: This case strengthens our understanding about hereditary basis of thrombophilia and provokes considerations for therapeutic options on prothrombin Belgrade mutation.