Spontaneous Splenic Rupture in a Patient With Combined Congenital Factor XIII and Factor VII Deficiencies: A Case...

Spontaneous (atraumatic) splenic rupture (SSR) is an uncommon and potentially fatal emergency, most frequently linked to infection, cancer, or hematologic disorders. Although clotting factor XIII (FXIII) and factor VII (FVII) deficiencies are uncommon bleeding disorders on their own, their coexistence and association with spontaneous splenic rupture have not been reported before.  A 26-year-old adult male with known congenital FXIII deficiency, epilepsy, right-sided hemiparesis, and developmental delay presented with diffuse abdominal pain and vomiting. He was first evaluated at another hospital, where he was found to be hypotensive and tachycardic. Imaging raised concern for splenic rupture with hemoperitoneum. By the time he arrived at our center, he remained markedly tachycardic (158 bpm) but was normotensive. A FAST examination was positive for free intraperitoneal fluid, and contrast-enhanced CT demonstrated active contrast extravasation from the spleen. Laboratory evaluation demonstrated prolonged prothrombin time (20.1 s; International Normalized Ratio 1.52), normal partial thromboplastin time, FVII activity of 31% (reference values 61-199%), and later confirmed FXIII activity of 40.7% (reference range 70-140%). The patient underwent emergency laparotomy and splenectomy, with approximately two liters of hemoperitoneum identified. A planned re-look laparotomy 48 hours later showed no evidence of ongoing bleeding. His post-operative recovery was met with more challenges. He experienced pressure injuries due to prolonged immobility, ventilator-associated pneumonia, difficulty tolerating feeds, and a return of seizures. However, he gradually made progress with supportive care and time in the surgical ICU. He was extubated on postoperative day 13 and eventually recovered fully, returning home without any long-term impairments. The underlying cause of this case, i.e., SSR in a patient with combined congenital FVII and FXIII deficiencies, makes it so remarkable. It serves as a helpful reminder that it's important to look beyond the typical suspects when someone exhibits unexplained abdominal bleeding and only minor abnormalities on standard coagulation tests. Prompt imaging, timely surgical intervention, and multidisciplinary coagulation management are essential for favorable outcomes.