S2543 Polycystic Liver Disease, Portal Hypertension, and Refractory Ascites: Is PLD the Cause?

Abstract

INTRODUCTION: Polycystic liver disease (PLD) is a rare genetic disorder typically characterized by the presence of more than twenty hepatic cysts. The prevalence of autosomal dominant polycystic kidney disease (ADPKD) associated PLD is 0.2%. We present an unusual case of PLD associated with refractory ascites in the absence of liver fibrosis or hepatic venous outflow obstruction. CASE DESCRIPTION/METHODS: This is a 54-year-old female with a history of ADPKD status post kidney transplant without evidence of cirrhosis or any decompensating events pre-transplant. Her post-transplant course was complicated by cecal and mesenteric volvulus status post right hemicolectomy. Roughly five weeks later, she developed severe ascites. Initial lab evaluation revealed no hepatocellular dysfunction. Diagnostic paracentesis indicated a SAAG of 1.4, ascitic total protein 2.1 and no evidence of SBP. Portal package showed abnormally tortuous venous vasculature. Right hepatic vein was difficult to wedge but measured 70-80 mm Hg; free right hepatic vein pressure was 5 mm Hg, IVC pressure was 4 mm Hg and a right atrial pressure was 5 mm Hg; overall, findings were consistent with portal hypertension. Liver biopsy showed no significant fibrosis or evidence of congenital hepatic fibrosis, but did show mild sinusoidal dilatation, potentially indicative of a vascular outflow abnormality. An abdominal CT was without evidence of extrinsic compression of the large hepatic veins. Due to anatomic difficulties, TIPS was not technically feasible, so she had a Denver shunt placed for refractory ascites with good control thereafter. DISCUSSION: Portal hypertension and ascites in the presence of PLD typically arises from three etiologies: liver cirrhosis, congenital hepatic fibrosis and hepatic venous outflow obstruction. This patient had no imaging to support large hepatic venous outflow obstruction, but given her histologic findings it is possible that her presentation is due to cystic compression of small venules, which cannot be visualized on cross sectional imaging. However, there is not any literature to support hepatic venule compression leading to portal hypertension. Due to chronic injury from elevated outflow pressures, these patients can develop fibrotic replacement of the hepatic parenchyma and may ultimately develop cirrhosis. Recognition and surveillance of these patients is necessary, as liver transplant may need to be considered if progressive cirrhosis complications become apparent.