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 cerebra...

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Detalles Bibliográficos
Autores principales: Huang, Teng, Liu, Yu, Jiang, Xiaofeng, Zhang, Wei, Zhou, Honglian, Hu, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9798687/
https://www.ncbi.nlm.nih.gov/pubmed/36578065
http://dx.doi.org/10.1186/s12959-022-00446-3
Descripción
Sumario: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.

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