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 language | English |
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Journal | Acta Haematologica |
Volume | 147 |
Issue number | 5 |
Pages (from-to) | 564-570 |
ISSN | 0001-5792 |
DOIs | |
Publication status | Published - 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