Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report and literature review

Background: Thrombophilia is a group of disorders that predispose to thrombosis, involving the interaction between genetic and acquired factors, mainly manifested as recurrent venous thromboembolism (VTE). Mutations in SERPINC1 lead to deficiency in antithrombin (AT) which is an endogenous anticoagulant of normal hemostasis and could result in VTE. Herein, we report a case of hereditary thrombophilia manifested by recurrent thrombosis involving the deep veins of the lower extremities, splanchnic veins, and cerebral vein. Case presentation: A 61-year-old male patient with recurrent thrombosis involving the deep veins of the lower extremities, splanchnic veins, and cerebral vein. 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. After diagnosis, the patient was treated with dabigatran and obtained a perfect therapeutic effect. Conclusion: A novel frameshift variation (c.233_236dup, p.Val80Alafs*26) within the SERPINC1 gene was identified in a multisystem VTE patient, which may play a significant role in human hereditary AT deficiencies. Our study enriches the insights of genetic factors for VTE and will facilitate the genetic diagnosis of this disease.