Copyright
©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
Antithrombin III deficiency in a patient with recurrent venous thromboembolism: A case report
Jia-Qing Luo, Shuai-Shuai Mao, Jin-Yi Chen, Xue-Ying Ke, Yue-Feng Zhu, Wei Huang, Hai-Ming Sun, Zhen-Jie Liu
Jia-Qing Luo, Hai-Ming Sun, Department of Vascular Surgery, Changxing People's Hospital, Changxing 313100, Zhejiang Province, China
Shuai-Shuai Mao, Department of Endocrinology, Changxing People's Hospital, Changxing 313100, Zhejiang Province, China
Jin-Yi Chen, Zhen-Jie Liu, Department of Vascular Surgery, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China
Xue-Ying Ke, Yue-Feng Zhu, Department of Vascular Surgery, Sir Runrun Shaw Hospital of Zhejiang University School of Medicine, Hangzhou 310000, Zhejiang Province, China
Wei Huang, Department of General Surgery, Changxing People's Hospital, Changxing 313100, Zhejiang Province, China
Author contributions: Luo JQ and Mao SS contributed to manuscript writing and editing, and data collection; Chen JY, Ke XY, and Zhu YF contributed to data collection and analysis; Huang W, Sun HM and Liu ZJ contributed to conceptualization and supervision; All authors have read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81670433 and No. 81970398; the Project of Zhejiang Medical Young Talents (2017); Zhejiang Medical and Health Science and Technology Project, No. 2020RC014; and the Natural Science Foundation of Zhejiang Province, No. LR22H020002.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: Dr. Sun reports grants from the National Natural Science Foundation of China, grants from Zhejiang Medical and Health Science and Technology Project, from the Natural Science Foundation of Zhejiang Province, during the conduct of the study.
CARE Checklist (2016) statement: The authors have read CARE Checklist (2016), and the manuscript was prepared and revised according to 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: Hai-Ming Sun, MD, Chief Physician, Department of Vascular Surgery, Changxing People's Hospital, No. 66 Taihu Middle Road, Changxing 313100, Zhejiang Province, China.
sun76543212023@163.com
Received: April 27, 2023
Peer-review started: April 27, 2023
First decision: May 8, 2023
Revised: May 19, 2023
Accepted: June 26, 2023
Article in press: June 26, 2023
Published online: July 16, 2023
Processing time: 75 Days and 15.9 Hours
BACKGROUND
Antithrombin III (AT3) deficiency, an autosomal dominant disease, increases the likelihood of an individual developing venous thromboembolism (VTE). Long-term anticoagulation treatment is required for those suffering from AT3 deficiency.
CASE SUMMARY
A man aged 23, who had a history of deep venous thrombosis (DVT), experienced recurrent pain and swelling in his right lower extremity for three days following withdrawal of Rivaroxaban. He was diagnosed with DVT and antithrombin III deficiency as genetic testing revealed a single nucleotide variant in SERPINC1 (c.667T>C, p.S223P). The patient was advised to accept long-term anticoagulant therapy.
CONCLUSION
Inherited AT3 deficiency due to SERPINC1 mutations results in recurrent VTE. Patients may benefit from long-term anticoagulant therapy.
Core Tip: Hereditary thrombophilia can be attributed to mutations in genes such as PROS, PROC, SERPINC1, and F5. Compared to mutations in other genes, mutations of SERPINC1 consistently lead to a more pronounced thrombophilia. Patients with this type of mutation are often advised to take warfarin as a therapeutic measure. However, evidence on the efficacy of direct oral anticoagulants is inadequate. Following identification of the SERPINC1 mutation, our patient was advised to take Rivaroxaban for 5 years to prevent the possibility of thrombus recurrence. This report may supply proof of the efficacy of direct oral anticoagulants in individuals suffering from hereditary thrombophilia.
