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Congenital dysfibrinogenemia as a rare cause of recurrent gastrointestinal bleeding
Weronika Lebowa1, Jakub Kenig1, Joanna Zdziarska2
1Klinika Chirurgii Ogólnej, Onkologicznej i Geriatrycznej, Collegium Medicum Uniwersytetu Jagiellońskiego, Kraków, Polska.
Insights
Recurrent gastrointestinal bleeding in a 59-year-old female was linked to congenital dysfibrinogenemia. This rare disorder affects fibrinogen function, complicating diagnosis and treatment of bleeding.
Area of Science:
- Gastroenterology
- Hematology
- Genetics
Background:
- Gastrointestinal bleeding is common, but rare causes can complicate diagnosis and treatment.
- Dysfibrinogenemia is a qualitative fibrinogen disorder characterized by reduced functional fibrinogen levels with normal antigenic levels.
Abstract:
<b>Introduction: </b>Gastrointestinal bleeding is a common disease that surgeons encounter in everyday clinical practice. It is most often easy to diagnose and treat. However, rare causes of bleeding can lead to delayed diagnosis and ineffective treatment. Dysfibrinogenemia is a qualitative fibrinogen disorder in which functional fibrinogen level is reduced with normal antigenic level. <br><b> Case report:</b> Herein we present the case of a 59-year-old female with recurrent gastrointestinal bleeds, that turned out to be an unusual manifestation of congenital dysfibrinogenemia. Detailed imaging and endoscopic diagnostics revealed portal hypertension with a non-bleeding 1-cm gastrointestinal stromal tumor and multiple angiodysplastic lesions in close proximity.
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