Congenital Hypodysfibrinogenemia due to γ326Cys→Tyr Mutation: Third Ever-Described Case Associated with Recurrent Venous Thrombosis and COVID Vaccine

Kumanan Rune Nanthan, Inge Søkilde Pedersen, Dorte Terp Andersen, Mustafa Vakur Bor*

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Introduction: Congenital fibrinogen disorders are a heterogenous group of fibrinogen defects. Case Presentation: Here, we describe hypodysfibrinogenemia in a 33-year-old female patient with provoked recurrent deep vein thrombosis (DVT) diagnosed based on decreased functional and antigenic fibrinogen levels with a decreased functional/antigenic fibrinogen ratio. Definitive diagnosis of congenital hypodysfibrinogenemia is done by genotyping using whole-exome sequencing, which identified the γ326Cys→Tyr mutation combined with single-nucleotide polymorphisms: rs2070011 and rs2070018 in FGA and rs1049636 in FGG. Fibrin structure assays showed reduced maximum polymerization rate. The mother of the proband shares the same γ326Cys→Tyr mutation and experienced a provoked DVT. Conclusion: Our case with DVT is the third ever-described occurrence of the mutation γ326Cys→Tyr that is associated with hypodysfibrinogenemia. The mechanism by which this mutation induces thrombosis remains unknown. Due to the high recurrence risk of thrombosis, the patient was treated with long-term reduced dose of rivaroxaban (10 mg daily) as secondary prophylaxis.

Original languageEnglish
JournalActa Haematologica
Volume147
Issue number5
Pages (from-to)564-570
ISSN0001-5792
DOIs
Publication statusPublished - 2024

Bibliographical note

Publisher Copyright:
© 2024 S. Karger AG, Basel.

Keywords

  • Congenital fibrinogen disorder
  • Hypodysfibrinogenemia
  • Thrombosis
  • γ chain
  • Recurrence
  • Fibrinogens, Abnormal/genetics
  • Humans
  • Fibrinogen/genetics
  • Venous Thrombosis/genetics
  • Rivaroxaban/therapeutic use
  • Afibrinogenemia/genetics
  • Female
  • Adult
  • Polymorphism, Single Nucleotide
  • Mutation
  • Amino Acid Substitution

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