BACKGROUND Antithrombin Ⅲ(AT3)deficiency,an autosomal dominant disease,increases the likelihood of an individual developing venous thromboembolism(VTE).Longterm anticoagulation treatment is required for those sufferi...BACKGROUND Antithrombin Ⅲ(AT3)deficiency,an autosomal dominant disease,increases the likelihood of an individual developing venous thromboembolism(VTE).Longterm 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.展开更多
基金Supported by the National Natural Science Foundation of China,No.81670433 and No.81970398the Project of Zhejiang Medical Young Talents(2017)+1 种基金Zhejiang Medical and Health Science and Technology Project,No.2020RC014the Natural Science Foundation of Zhejiang Province,No.LR22H020002.
文摘BACKGROUND Antithrombin Ⅲ(AT3)deficiency,an autosomal dominant disease,increases the likelihood of an individual developing venous thromboembolism(VTE).Longterm 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.
