Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up

被引：1

作者：

Huang, Teng ^{[1
]}

Liu, Yu ^{[1
]}

Jiang, Xiaofeng ^{[2
,3
]}

Zhang, Wei ^{[4
]}

Zhou, Honglian ^{[2
]}

Hu, Qi ^{[2
]}

机构：

[1] Huazhong Univ Sci & Technol, Tongji Hosp, Dept Geriatr, Tongji Med Coll, Wuhan 430030, Peoples R China

[2] Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Gen Med, Wuhan 430030, Peoples R China

[3] Yangxin Cty Gen Hosp, Dept Gen Med, Yangxin 435200, Peoples R China

[4] Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Hematol, Wuhan 430030, Peoples R China

来源：

THROMBOSIS JOURNAL | 2022年 / 20卷 / 01期

关键词：

Thrombophilia; Venous thrombosis; Antithrombin deficiency; SERPINC1; Dabigatran; ANTITHROMBIN DEFICIENCY; THROMBOPHILIA; HEREDITARY;

D O I：

10.1186/s12959-022-00446-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：7