» Articles » PMID: 37583989

Antithrombin III Deficiency in a Patient with Recurrent Venous Thromboembolism: A Case Report

Overview
Specialty General Medicine
Date 2023 Aug 16
PMID 37583989
Authors
Affiliations
Soon will be listed here.
Abstract

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 (c.667T>C, p.S223P). The patient was advised to accept long-term anticoagulant therapy.

Conclusion: Inherited AT3 deficiency due to mutations results in recurrent VTE. Patients may benefit from long-term anticoagulant therapy.

Citing Articles

Higher dose of rivaroxaban for the treatment of venous thromboembolism in a 15-year-old Asian child with antithrombin deficiency: A case report and literature review.

Liang C, Chen Y, Liu F, Yue Y, Du L Medicine (Baltimore). 2025; 104(9):e41629.

PMID: 40020143 PMC: 11875584. DOI: 10.1097/MD.0000000000041629.

References
1.
Kawai H, Matsushita H, Kawada H, Ogawa Y, Ando K . The Successful Prevention of Thromboembolism Using Rivaroxaban in a Patient with Antithrombin Deficiency during the Perioperative Period. Intern Med. 2017; 56(17):2339-2342. PMC: 5635311. DOI: 10.2169/internalmedicine.8487-16. View

2.
Kearon C, Akl E, Ornelas J, Blaivas A, Jimenez D, Bounameaux H . Antithrombotic Therapy for VTE Disease: CHEST Guideline and Expert Panel Report. Chest. 2016; 149(2):315-352. DOI: 10.1016/j.chest.2015.11.026. View

3.
Corral J, de la Morena-Barrio M, Vicente V . The genetics of antithrombin. Thromb Res. 2018; 169:23-29. DOI: 10.1016/j.thromres.2018.07.008. View

4.
Mitsuguro M, Sakata T, Okamoto A, Kameda S, Kokubo Y, Tsutsumi Y . Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: type I deficiency as a strong risk factor for venous thromboembolism. Int J Hematol. 2010; 92(3):468-73. DOI: 10.1007/s12185-010-0687-5. View

5.
Alhenc-Gelas M, Plu-Bureau G, Hugon-Rodin J, Picard V, Horellou M . Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. Thromb Haemost. 2017; 117(6):1040-1051. DOI: 10.1160/TH16-08-0635. View