Fibrinogen Deficiency: A Case Report

Congenital fibrinogen deficiency is a rare autosomal recessive bleeding disorder characterized by absent or reduced levels of functional fibrinogen. It presents variably in childhood, often with umbilical stump bleeding, mucocutaneous hemorrhages, or life-threatening bleeding episodes. Early diagnosis and treatment are essential to prevent complications. We report a case of a 5-year-old boy with a history of recurrent bleeding since infancy, including umbilical stump hemorrhage and easy bruising. He presented with spontaneous massive anterior epistaxis that was difficult to control. Laboratory tests revealed severe anemia, prolonged prothrombin time (PT >100 sec), activated partial thromboplastin time (APTT >180 sec), and critically low fibrinogen levels (48 mg/dL).He was diagnosed with congenital hypofibrinogenemia and managed with cryoprecipitate, packed red blood cells, and tranexamic acid. His bleeding resolved and coagulation parameters normalized. Two months later, he was readmitted with gum bleeding, which was successfully treated with repeat cryoprecipitate transfusion. This case highlights the importance of recognizing congenital fibrinogen deficiency in pediatric patients with unexplained or recurrent bleeding. Prompt coagulation testing, including fibrinogen assay, is critical for diagnosis. Cryoprecipitate remains an effective and accessible treatment in resource-limited settings. Long-term follow-up, family education, and preventive strategies are essential to improve outcomes and prevent bleeding-related morbidity. Keywords: Fibrinogen deficiency, epistaxis, pediatric bleeding, cryoprecipitate.