Bleeding Without a Wound: Spontaneous Splenic Rupture in a Child With Congenital Afibrinogenemia

Abstract

Congenital afibrinogenemia, a rare bleeding disorder (1–2 per million) characterized by a complete absence of fibrinogen, presents a high risk for life-threatening spontaneous splenic rupture. It is an autosomal recessive disease and occurs as a result of mutation in one of the three genes which code the three polypeptide chains of fibrinogen. In this case report, we present a 13-year-old boy who presented with abdominal pain, vomiting, and giddiness. On examination, he had pallor, abdominal guarding, tachycardia, and hypotension. Laboratory investigations indicated severe anemia with low hemoglobin, prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT), and a normal platelet count. Contrast-enhanced computed tomography (CECT) revealed splenic hematoma with hemoperitoneum secondary to splenic rupture, while Histopathological examination (HPE) findings suggested a congested spleen. Bedside point-of-care ultrasound (POCUS) showed free intraperitoneal fluid, and Rotational thromboelastometry (ROTEM) reported absent clot firmness suggestive of severe coagulopathy. Cryoprecipitate transfusion was administered, and emergency splenectomy was subsequently performed after achieving ROTEM correction. The patient was prescribed aspirin, paracetamol, penicillin, omeprazole, and vitamin C supplementation on discharge. This case highlights the critical role of early bedside POCUS and ROTEM assessment in enabling prompt diagnosis and effective surgical and therapeutic management.