Orthotopic liver transplantation for portosystemic encephalopathy in an adult with congenital absence of the portal vein

Abstract

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.

Multiple regenerative nodular hyperplasia in the left infrarenal vena cava accompanied by abernethy malformation

“…In countries having neonatal screening programmes, some cases can be diagnosed by neonatal screening tests due to presence of galactosemia [11]. Many patients are diagnosed due to associated defects like heart disease, which are present in up-to 60 % of the patients [14].…”

“…Wojcicki et al described a 45-year-old man with congenital portocaval shunt type 1 and end-stage renal insufficiency due to focal segmental glomerulopathy, who developed therapyresistant encephalopathy with intermittently high ammonia levels. The patient underwent a combined liver and kidney transplantation and histopathological examination of the native liver showed no portal vein branches in the portal tracts [14].…”

Living donor liver transplantation for congenital absence of the portal vein in a child with cardiac failure

“…Only 6 patients had encephalopathy among the 57 reported patients [5,7,8,10,11,13]. Because of its unknown natural course for lack of follow-up research, it is in dispute whether CAPV during the asymptomatic phase is an indication for transplantation.…”

“…Surgical banding, ligating, or radiologic embolization of shunt vessels can be applied for intrahepatic types and extrahepatic type II [8,9]. In the case of extrahepatic type I (CAPV), these invasive therapies are impossible, and liver transplantation is the only option [5,8,10].…”

Insight into congenital absence of the portal vein: Is it rare?

“…Surgical decompression is also recommended for selected children in order to promote their growth [128] . CAPV has been thought to be asymptomatic and has no indication for LT, and only a few cases having been reported [2,17,27,56,129] . More and more surgeons hold that LT is necessary when medical therapy cannot relieve CAPV-associated abnormalities, such as CAPVassociated cirrhosis caused by biliary atresia [4,17] , diffuse hepatoblastoma involving both lobes of the liver [26] , and severe portosystemic encephalopathy [56] .…”