Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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September 9, 2013
Congenital Afibrinogenemia
- Congenital afibrinogenemia is an inherited disorder characterized by absence of fibrinogen, thus impairing fibrin clot formation.
- Clinical manifestations range from minor to severe bleeding, often with long asymptomatic intervals. Bleeding may occur spontaneously as well as in relation to trauma.
- Key Diagnostic Features: Intraaxial or extraaxial hemorrhage of varying age and with minimal or no trauma history. Most often, the hematomas (intra- and extraaxial) are isodense to the brain. However, if the patient is on substitution therapy, the hematomas can be hyperdense (as is normally the case).
- DDx: Trauma; other bleeding diathesis; acquired coagulopathy
- Rx: Substitution fibrinogen therapy
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