Liao F, Zeng JL, Pan JG, Ma J, Zhang ZJ, Lin ZJ, Lin LF, Chen YS, Ma XT. Patients with SERPINC1 rs2227589 polymorphism found to have multiple cerebral venous sinus thromboses despite a normal antithrombin level: A case report. World J Clin Cases 2022; 10(2): 618-624 [PMID: 35097087 DOI: 10.12998/wjcc.v10.i2.618]
Corresponding Author of This Article
Xiao-Tang Ma, PhD, Chief Doctor, Department of Neurology, Affiliated Hospital of Guangdong Medical University, No. 57 Renmin Avenue South Road, Xiashan District, Zhanjiang 524001, Guangdong Province, China. mxtgdmc@163.com
Research Domain of This Article
Clinical Neurology
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. Jan 14, 2022; 10(2): 618-624 Published online Jan 14, 2022. doi: 10.12998/wjcc.v10.i2.618
Patients with SERPINC1 rs2227589 polymorphism found to have multiple cerebral venous sinus thromboses despite a normal antithrombin level: A case report
Feng Liao, Jun-Ling Zeng, Jian-Gang Pan, Jing Ma, Zhi-Jian Zhang, Zhi-Jun Lin, Li-Feng Lin, Yu-Sen Chen, Xiao-Tang Ma, Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, Guangdong Province, China
Xiao-Tang Ma, Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, Guangdong Province, China
Author contributions: Liao F and Zeng JL contributed equally to this work; Liao F and Zeng JL wrote the manuscript; Pan JG, Ma J, Zhang ZJ, Lin ZJ and Lin LF performed the experiment and analyzed the data; Ma XT and Chen YS designed the research study and revised the manuscript; all authors have read and approved the final manuscript.
Supported bythe Affiliated Hospital of Guangdong Medical University, No. LCYJ2018C009.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xiao-Tang Ma, PhD, Chief Doctor, Department of Neurology, Affiliated Hospital of Guangdong Medical University, No. 57 Renmin Avenue South Road, Xiashan District, Zhanjiang 524001, Guangdong Province, China. mxtgdmc@163.com
Received: March 23, 2021 Peer-review started: March 23, 2021 First decision: September 28, 2021 Revised: October 10, 2021 Accepted: December 8, 2021 Article in press: December 8, 2021 Published online: January 14, 2022 Processing time: 294 Days and 22 Hours
Abstract
BACKGROUND
The hereditary antithrombin (AT) deficiency caused by SERPINC1 gene mutation is an autosomal dominant thrombotic disorder. An increasing number of studies have shown that mutations in the SERPINC1 rs2227589 polymorphic site are correlated with a risk of venous thromboembolism (VTE) at common sites, such as lower extremity deep venous thrombosis and pulmonary thromboembolism. Currently, there are no reports of cerebral venous sinus thrombosis (CVST), a VTE site with a low incidence rate and rs2227589 polymorphism.
CASE SUMMARY
Here, we report a Chinese CVST case with a mutation of the SERPINC1 rs2227589 polymorphic site, which did not cause significant AT deficiency. In a 50-year-old male patient presenting with multiple cerebral venous sinus thromboses no predisposing factors were detected, although a relative had a history of lower extremity deep venous thrombosis. We performed sequencing of the SERPINC1 gene for the patient and his daughter, which revealed the same heterozygous mutation at the rs2227589 polymorphic site: c.41+141G>A.
CONCLUSION
The results showed that more studies should be conducted to assess the correlation between rs2227589 polymorphism and CVST.
Core Tip: The hereditary antithrombin (AT) deficiency caused by SERPINC1 gene mutation is an autosomal dominant thrombotic disorder. Currently, there are no reports on SERPINC1 rs2227589 polymorphism and cerebral venous sinus thrombosis (CVST). Here, we report for the first time a Chinese CVST case with a mutation of the SERPINC1 rs2227589 polymorphic site, which did not cause significant AT deficiency. More studies should be conducted to assess the correlation between rs2227589 polymorphism and CVST.
