Early-onset ischaemic stroke in patient with novel F2 c.1824C>T gene variant and PAI-1 4G/4G, MTHFR 677TT genotype
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Published:2021
Issue:00
Volume:
Page:66-66
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ISSN:0042-8450
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Container-title:Vojnosanitetski pregled
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language:en
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Short-container-title:VOJNOSANIT PREGL
Author:
Pruner Iva1,
Dincic Evica1,
Gvozdenov Maja1ORCID,
Tomic Branko1ORCID,
Kovac Mirjana1ORCID,
Djordjevic Valentina1
Abstract
Background/Aim. Ischemic stroke is a heterogeneous disorder caused by several
genetic and environmental risk factors. It was suggested that coagulation
disorders cause 1-4% of cases with ischemic stroke, especially in patients
with early-onset of ischemic stroke. Case report. Here, we describe a case
of patient who developed an unprovoked ishemic stroke in young adult.
Biochemical, immunological and thrombophilia screening, as well DNA
sequencing were performed in order to reveal molecular pathology underlying
stroke of patient. Thrombophilia testing showed that patient was homozygous
carrier for PAI-1 4G/5G and MTHFR C677T mutations. Additional genetic
analysis revealed the presence of recently reported FII c.1824C>T gene
variant, which is located in the last exon of prothrombin gene and
previously shown to cause hyperprothrombinemia, hypofibrinolysis and altered
fibrin clot phenotype. Conclusion. Our results suggest that newly reported
FII c.1824C>T gene variant might have synergistic effect with PAI 4G/4G and
MTHFR 677TT genotype in formation of altered fibrin clot phenotype
characterized by thin, densely packed fibrin fibers, which makes clot less
susceptible to fibrinolysis and greatly increases the risk for early
ischemic stroke onset.
Funder
Ministry of Education, Science and Technological Development of the Republic of Serbia
Publisher
National Library of Serbia
Subject
Pharmacology (medical),General Medicine