Dysfibrinogenemia and thrombosis. A case report

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Published Oct 1, 2010
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Vol. 88 No. 10 (2010): Issue Oct 2010

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Imen Kraiem
Sami Guermazi
Hela Ben Abid
Balkis Meddeb

Abstract

Background : Congenital dysfibrinogenemia is a functional disorder of the fibrinogen that represents a rare cause of thrombophilia.
Aim : To report a Tunisian case of the association dysfibrinogenemia and thrombosis.
Case : A woman with inherited dysfibrinogenemia associated with mild tendency to bleeding experienced a deep vein thrombosis of the lower-extremity at 26 years of age and a fatal pulmonary embolism a few years later. Paradoxically coagulation function of fibrinogen was markedly altered in vitro with a significantly prolonged prothrombin time, activated partial thromboplastin time and thrombin time, a functional fibrinogen level that was undetected and a severely impaired fibrin polymerisation. The thromboembolic events in the patient could be related to dysfibrinogenemia since the main causes of thrombophilia were excluded.
Conclusion : Although it is rare, this cause of thrombophilia must not be misdiagnosed, systematic measuring of prothrombin time, activated partial thromboplastin time and functional fibrinogen might be helpful.

Keywords:

dysfibrinogenemia, thrombosis, thrombophilia, fibrinogen, fibrin polymerisation

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