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Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up.
- Source :
- Thrombosis Journal; 12/28/2022, Vol. 20 Issue 1, p1-7, 7p
- Publication Year :
- 2022
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- PYRIDINE
CEREBRAL embolism & thrombosis
PROTHROMBIN time
GENETIC mutation
SEQUENCE analysis
COLOR Doppler ultrasonography
BENZIMIDAZOLES
ANTICOAGULANTS
VENOGRAPHY
PULMONARY artery
MAGNETIC resonance imaging
QUANTITATIVE research
TREATMENT effectiveness
VENOUS thrombosis
INTRA-abdominal infections
BLOOD diseases
THROMBIN time
RESEARCH funding
ABDOMINAL pain
COMPUTED tomography
ANGIOGRAPHY
POLYMERASE chain reaction
LONGITUDINAL method
ANTIGENS
SYMPTOMS
Subjects
Details
- Language :
- English
- ISSN :
- 14779560
- Volume :
- 20
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Thrombosis Journal
- Publication Type :
- Academic Journal
- Accession number :
- 161029391
- Full Text :
- https://doi.org/10.1186/s12959-022-00446-3