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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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
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author Huang, Teng
Liu, Yu
Jiang, Xiaofeng
Zhang, Wei
Zhou, Honglian
Hu, Qi
author_facet Huang, Teng
Liu, Yu
Jiang, Xiaofeng
Zhang, Wei
Zhou, Honglian
Hu, Qi
author_sort Huang, Teng
collection PubMed
description 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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spelling pubmed-97986872022-12-30 Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up Huang, Teng Liu, Yu Jiang, Xiaofeng Zhang, Wei Zhou, Honglian Hu, Qi Thromb J Case Report 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. BioMed Central 2022-12-28 /pmc/articles/PMC9798687/ /pubmed/36578065 http://dx.doi.org/10.1186/s12959-022-00446-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Huang, Teng
Liu, Yu
Jiang, Xiaofeng
Zhang, Wei
Zhou, Honglian
Hu, Qi
Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up
title Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up
title_full Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up
title_fullStr Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up
title_full_unstemmed Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up
title_short Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up
title_sort favourable outcome of multisystem venous thrombosis associated with novel serpinc1 mutation after treated with dabigatran: a case report with 7-year follow-up
topic Case Report
url 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
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