A Congenital Portosystemic Shunt Associated with Celiac Sprue wnd Gilbertʼs Syndrome

Abstract

Purpose: A 28-year-old Caucasian male with history of celiac sprue presented to an outside facility with acute onset of diffuse abdominal pain, fever, nausea, vomiting, and diarrhea for the preceding four hours. The patient also reported intermittently having dark urine and light stools for several months. Lab work obtained was significant for an elevated bilirubin level, and a CT scan of the abdomen was suspicious for a portal vein aneurysm. The patient was then referred for further evaluation by Vascular Surgery and Gastroenterology. His total bilirubin was 6.6 mg/dL with no conjugated component, consistent with Gilbert's syndrome. An abdominal ultrasound was abnormal, with the main extrahepatic portal vein communicating with the inferior vena cava; the right branch of the portal vein and the distal left portal veins were not visible, raising concern for chronic thrombosis or congenital agenesis. An abdominal MRI was obtained for further evaluation of the vasculature and was significant for the portal vein flowing directly into the intrahepatic inferior vena cava, consistent with a congenital portacaval shunt. There were no portal vein branches within the liver, which was confirmed by liver biopsy showing no well-defined portal venules. The patient was diagnosed with dehydration secondary to an acute gastroenteritis, along with new diagnoses of Gilbert's syndrome and an Abernathy malformation in addition to his previously diagnosed celiac sprue. Abernathy malformation was first described as an absent portal vein and a congenital mesenterico-caval shunt. There are two types of shunts, type 1 being a congenital absence of the portal vein with resultant complete diversion of portal blood into the vena cava. Type 2, which is seen in this patient, occurs when the blood from the intact portal vein is diverted into the vena cava through an extrahepatic communication. Congenital shunts are associated with other anomalies, including heart disease, biliary atresia, duodenal atresia, and both benign and malignant hepatic neoplasms requiring a thorough screening process. Am J Gastroenterol 2009; 104:S304-S325; doi:10.1038/ajg.2009.492