S2529 Autosomal Recessive Polycystic Kidney Disease Manifesting as Portal Hypertension

Abstract

INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition affecting 1 in 20,000 children. The liver is always involved with early fibrosis. The severity and progression of symptoms is variable with some patients not developing symptoms until adolescence or later. Here, we present a rare presentation of ARPKD with splenomegaly and pancytopenia. CASE DESCRIPTION/METHODS: A 22 year-old female with no significant medical history was referred for possible cirrhosis. She was in her usual state of health until developing back pain and fevers. Labs revealed a new pancytopenia with white blood cell 1.2K, hemoglobin 5.7 and platelets 42K. CT showed massive splenomegaly (26 cm), possible cirrhosis, portal hypertension and dilated biliary ducts. AST, ALT, total bilirubin, and alkaline phosphatase were within normal limits. Creatinine was 1.9. Bone marrow biopsy was non-diagnostic. She was seen by Nephrology and thought to have polycystic kidney disease. She reported intermittent left upper quadrant pain. She otherwise denied leg swelling, overt gastrointestinal bleeding, jaundice, nausea or vomiting, alcohol or IV drug use, tattoos, or family history of liver disease. Liver biopsy revealed multiple bile duct hamartomas (von Meyenberg complexes) and focal bridging fibrosis, likely congenital hepatic fibrosis. Upper endoscopy revealed esophageal varices requiring band ligation. Genetic testing confirmed a diagnosis of ARPKD. She was deferred for liver/kidney transplantation due to preserved liver synthetic function and stable renal function not requiring dialysis (GFR 36–39). Given her pancytopenia and persistent symptoms from splenomegaly, partial angio-embolization of the splenic artery was performed. Her cell counts normalized within days to weeks post-procedure. She continues to follow with Hepatology with surveillance endoscopies, doing well with normal spleen size on imaging (Figure 1). DISCUSSION: Congenital hepatic fibrosis can occur alone, but more commonly accompanies a genetic renal disorder, such as in ARPKD. Clinical concerns include portal hypertension and cholangitis from dilated bile ducts. Unlike cirrhosis, hepatocellular function is preserved. Partial splenic artery embolization is a relatively safe procedure for managing portal hypertension. It can help prevent or treat variceal bleeding, hepatic encephalopathy, and improve cell counts. For those who fail medical or less invasive management, transplantation should be considered.Figure 1