Published online Jul 16, 2023. doi: 10.12998/wjcc.v11.i20.4956
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
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.
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.
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.