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 language | English (US) |
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Pages (from-to) | 392-394 |
Number of pages | 3 |
Journal | Blood Coagulation and Fibrinolysis |
Volume | 25 |
Issue number | 4 |
DOIs | |
State | Published - Jun 2014 |
Keywords
- Chapel Hill
- Dusart
- Paris V
- dysfibrinogenemia
- fibrinogen
- hypercoagulable state
- splanchnic vein thrombosis
- thromboembolism
ASJC Scopus subject areas
- Hematology