Fibrinogen Dusart presenting as recurrent thromboses in the hepatic portal system

Blood Coagul Fibrinolysis. 2014 Jun;25(4):392-4. doi: 10.1097/MBC.0000000000000045.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Afibrinogenemia / blood
  • Afibrinogenemia / diagnosis*
  • Afibrinogenemia / genetics
  • Diagnosis, Differential
  • Fibrinogen / genetics
  • Hepatitis C / blood
  • Hepatitis C / genetics
  • Humans
  • Male
  • Portal System / physiopathology*
  • Thrombosis / blood
  • Thrombosis / diagnosis*
  • Thrombosis / genetics

Substances

  • fibrinogen Aalpha
  • Fibrinogen