Wu YF, Huang Y, Weng BH, Deng S, Pan LY, Li Z. Systemic thrombosis with prothrombin Belgrade mutation in a Chinese patient: A case report. World J Clin Cases 2025; 13(10): 98390 [DOI: 10.12998/wjcc.v13.i10.98390]
Corresponding Author of This Article
Zhen Li, MD, Department of Neurology, Tianjin Medical University General Hospital, No. 154 Anshan Road, Tianjin 300052, China. lzz_tmu@163.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Apr 6, 2025; 13(10): 98390 Published online Apr 6, 2025. doi: 10.12998/wjcc.v13.i10.98390
Systemic thrombosis with prothrombin Belgrade mutation in a Chinese patient: A case report
Yan-Feng Wu, Yan Huang, Bao-Hui Weng, Shan Deng, Li-Ya Pan, Zhen Li
Yan-Feng Wu, Yan Huang, Bao-Hui Weng, Shan Deng, Li-Ya Pan, Department of Neurology, Liuzhou Worker’s Hospital, Liuzhou 545007, Guangxi Zhuang Autonomous Region, China
Zhen Li, Department of Neurology, Tianjin Medical University General Hospital, Tianjin 300052, China
Co-first authors: Yan-Feng Wu and Yan Huang.
Co-corresponding authors: Li-Ya Pan and Zhen Li.
Author contributions: Wu YF and Huang Y wrote original draft and generated conceptualization, they contributed equally as co-first authors; Weng BH and Deng S collected the case data; Li Z and Pan LY reviewed and edited the manuscript, and supervised the study, they contributed equally as co-corresponding authors.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Zhen Li, MD, Department of Neurology, Tianjin Medical University General Hospital, No. 154 Anshan Road, Tianjin 300052, China. lzz_tmu@163.com
Received: June 25, 2024 Revised: October 29, 2024 Accepted: December 5, 2024 Published online: April 6, 2025 Processing time: 176 Days and 16.1 Hours
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.
Core Tip: The aim of our present study is to display a novel missense mutation in the prothrombin gene (p.Arg596Gln) in a Chinese patient with onset of cerebral venous thrombosis. Considering that prothrombin Belgrade mutation mechanism and treatment are still not fully elucidated, we provide the understanding about hereditary risk factors of cerebral venous thrombosis and trigger the further exploration of effective and exact therapeutic options and management on cerebral venous thrombosis caused by prothrombin Belgrade mutation.
