Congenital absence of the portal vein (CAPV) is a very rare venous malformation in which mesenteric venous blood drains directly into the
systemic circulation. There is no portal perfusion of the liver and no portal hypertension. This abnormality is usually coincidentally discovered in children, the majority of whom have no signs of encephalopathy and only slightly abnormal liver function tests. Additional anomalies common in CAPV are cardiovascular abnormalities and hepatic tumors. To date, only 5 adult patients (>18 years) with CAPV have been described, none of whom underwent liver transplantation. We describe a 45-year-old man with CAPV and endstage renal insufficiency due to focal segmental glomerulopathy, who developed therapy-resistant encephalopathy with intermittently high ammonia levels. The patient underwent a combined liver and kidney transplantation and is doing well at 2.5 years of follow-up. Histopathological examination of the native liver showed no portal vein branches in the portal tracts. In conclusion, our experience suggests that, although children with CAPV usually have no symptoms of encephalopathy, this may still develop at a later stage in adult life. When encephalopathy becomes refractory to medical therapy, orthotopic liver transplantation (OLT) can be successfully performed with restoration of normal cerebral function. (Liver Transpl 2004;10:1203-1207.)
C ongenital diversion of portal blood away from the liver was first described by Abernethy in 1793. 1 The congenital portocaval shunts drain all the mesenteric venous blood either directly into the inferior vena cava 2,3 or into the left renal vein, 4 -6 left hepatic vein or the iliac vein. 2 It is frequently associated with cardiac defects, liver tumors, or biliary atresia. 2,7 -9 Interestingly, portosystemic encephalopathy (PSE) is rarely seen in these patients. 7,10 Among 33 cases of CAPV that have been reported in the literature so far, only 8 patients required OLT. All of these 8 patients were children, who required OLT for hepatoblastoma, 11 liver cirrhosis due to biliary atresia, 7 -9 growth retardation, 12 or PSE. 12 CAPV itself is not an indication for OLT. This is the first report of a successful OLT in an adult patient with CAPV. The patient underwent combined liver and kidney transplantation for progressive PSE and end-stage kidney insufficiency.