Congenital absence of the portal vein identified following the onset of esophageal-gastric variceal rupture.

A 36-year-old woman with an unremarkable medical history was admitted to our hospital owing to hematemesis. Upper gastrointestinal endoscopy revealed F3 esophageal varices and F3 gastric varices with erosions, which were treated with endoscopic injection sclerotherapy with histoacryl. Contrast-enhanced computed tomography showed that the superior mesenteric vein and splenic vein converged and drained into the inferior vena cava, with no identifiable intrahepatic portal vein branches. Additionally, collateral circulation and thrombosis in the superior mesenteric vein were identified. On the basis of these findings, we diagnosed congenital absence of the portal vein and associated portal hypertension. After treatment for various complications, the patient underwent living donor liver transplantation as a curative treatment. Surgical pathology also supported the diagnosis of portal vein agenesis. Congenital absence of the portal vein is a rare congenital condition, and only one case involving variceal rupture has been reported. There are no established treatment protocols; however, given the pathophysiology, the development of varices is certainly possible. Effective bridging therapy followed by living donor liver transplantation is expected to result in a favorable prognosis. Although the patient remained free from rebleeding for seven months after initial treatment, the absence of portal flow and progression of SMV thrombosis indicated a high risk of recurrence and other complications. After multidisciplinary discussion, living donor liver transplantation was chosen as the most reliable curative treatment compared with endoscopic therapy or shunt surgery.