Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up
Background: Mutations in SERPINC1 lead to deficiency in antithrombin (AT) which is an endogenous anticoagulant of normal hemostasis and could result in venous thromboembolism (VTE). Case presentation: A 61-year-old male patient with recurrent thrombosis returned to the hospital with multiple cerebral thrombosis after voluntary cessation of dabigatran therapy. Laboratory tests revealed a type I AT deficiency in this patient and further whole exome sequencing (WES) identified a novel heterozygous frameshift duplication (c.233_236dup, p.Val80Alafs*26) in SERPINC1 gene. Long-term dabigatran treatment was given and no recurrence or side effects were found within the followed 5 years. Conclusion: A multisystem VTE patient with a novel SERPINC1 mutation (c.233_236dup, p.Val80Alafs*26) reached a favourable outcome after dabigatran treatment.
基金：
Natural Science Foundation of Hubei Province; [2021CFB381]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Hosp, Dept Geriatr, Tongji Med Coll, Wuhan 430030, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Huang Teng,Liu Yu,Jiang Xiaofeng,et al.Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up[J].THROMBOSIS JOURNAL.2022,20(1):doi:10.1186/s12959-022-00446-3.
APA：
Huang, Teng,Liu, Yu,Jiang, Xiaofeng,Zhang, Wei,Zhou, Honglian&Hu, Qi.(2022).Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up.THROMBOSIS JOURNAL,20,(1)
MLA：
Huang, Teng,et al."Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up".THROMBOSIS JOURNAL 20..1(2022)
