Fibrinogen Dusart presenting as recurrent thromboses in the hepatic portal system

Yu Min Shen, Vinh Trang, Ravi Sarode, Stephen Brennan

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Dysfibrogenemias are characterized by the production of abnormally functioning fibrinogen, occurring in the presence of liver disease, medication toxicity, malignancy, or genetic mutation. Here, we report a patient with multiple, separate episodes of hepatic portal system thromboses associated with dysfibrinogenemia. Molecular studies identified the presence of a 554Arg→Cys mutation in the fibrinogen Aα gene, previously identified as Fibrinogen Dusart (also known as Fibrinogen Paris V and Fibrinogen Chapel Hill). This case further illustrates the association of this dysfibrinogenemia with a unique thrombophilic manifestation.

Original languageEnglish (US)
Pages (from-to)392-394
Number of pages3
JournalBlood Coagulation and Fibrinolysis
Volume25
Issue number4
DOIs
Publication statusPublished - 2014

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Keywords

  • Chapel Hill
  • Dusart
  • dysfibrinogenemia
  • fibrinogen
  • hypercoagulable state
  • Paris V
  • splanchnic vein thrombosis
  • thromboembolism

ASJC Scopus subject areas

  • Hematology

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