Case Presentation: A 19 year-old man with no significant past medical history presented with new onset hematemesis. On admission workup was significant for a hemoglobin of 7 and a CT scan that was concerning for esophageal varices. The patient was transfused 1 unit of PRBCs and started on a PPI and octreotide drip. On physical exam there was no jaundice, scleral icterus, palmar erythema, spider angiomata or gynecomastia. His abdomen was soft, non-distended and without any appreciable hepatosplenomegaly. He underwent upper endoscopy which revealed grade 2 esophageal varices. Subsequent workup for an underlying etiology of his portal hypertension included a CT liver protocol that revealed a homogenous liver appearance but a small left lobe with markedly underdeveloped intrahepatic portal veins. The main portal vein was tortuous with an extensive network of collateral vessel congestion including large perigastric, esophageal, paraesophageal and perisplenic varices with significant splenomegaly but no polysplenia. Echo on our patient did not reveal any cardiac malformation.

Discussion: Congenital absence of the portal vein (CAPV) is a rare condition. This can be associated with other congenital anomalies including a variety of congenital cardiac defects and polysplenia. CAPV can also lead to downstream effects including portal hypertension, gastric and esophageal varices, cirrhosis and hepatic encephalopathy. Since our patient only had congenital malformation of the left portal vein, he developed significant portal hypertension over time but did not have any physical exam findings, labs or imaging consistent with cirrhosis. A TIPS was performed to decrease his portal hypertension, and he will follow up with hepatology as an outpatient.

Conclusions: While cirrhosis often has a syndromic presentation with multiple physical exam findings and lab abnormalities, the absence of these other findings should prompt further evaluation for other causes of portal hypertension. Congenital absence of the portal vein is a rare condition that can be associated with other congenital malformations as well as long term sequelae including portal hypertension. Although rare, CAPV should be considered in the differential of atypical portal hypertension.