An adolescent presenting with hematemesis and renal abnormalities†
Authors: M. Isabel Fiel, Thomas Schiano
Journal: Hepatology (2009)

An 18-year-old previously healthy male college freshman presented with massive hematemesis and hypotension. After aggressive transfusional support and volume resuscitation an emergent endoscopy was performed and demonstrated large bleeding esophageal varices. Variceal band ligation successfully stopped the hemorrhage, and the patient's condition stabilized. Initial laboratory testing showed the following: international normalized ratio 1.3, platelet count 240 × 103, normal aminotransferases and bilirubin, alkaline phosphatase 247 U/L, hemoglobin 9.6 g/dL, and creatinine 2.3 mg/dL. Abdominopelvic ultrasonography and computed tomography scan demonstrated heterogeneous hepatic parenchyma, borderline splenomegaly, a patent portal vein, scattered large renal cysts, and renal parenchymal calcifications. The patient had been adopted, so a pertinent family history could not be obtained. He denied using recreational drugs, or herbal or prescription medications. A liver biopsy was performed. CHF, congenital hepatic fibrosis; DPM, ductal plate malformation. Figure 1A shows a portal tract at cross-section showing rounded edges with many abnormally formed bile ducts (arrows) embedded in dense fibroconnective tissue. A discontinuous string of ductal structures (arrowheads) encircles the portal area typical of ductal plate malformation (DPM). Fibrous bands partially enclose irregular islands of hepatocytes thereby creating the appearance of a "jigsaw puzzle". Some of the abnormal bile duct structures contain bile within the lumen (arrows) (Fig. 1B). Figure 1C is a trichrome stain taken at low-power magnification showing portal areas that are expanded by dense fibrosis with fibrous bands linking adjacent portal tracts. The above findings are consistent with congenital hepatic fibrosis (CHF).1, 2 CHF is an inherited disorder often associated with autosomal recessive polycystic kidney disease. It occurs predominantly in children and adolescents with the latter presenting with complications of portal hypertension. Liver chemistry tests and hepatic synthetic function are typically normal except serum alkaline phosphatase may be increased. Associated conditions with CHF include congenital heart disease, pulmonary arteriovenous fistulas, tuberous sclerosis, cavernous transformation of the portal vein, and kidney disease (medullary sponge kidney and polycystic kidneys).3 CHF is included in an overlapping syndrome of hepatobiliary polycystic disease that consists of Caroli's disease, choledochal cyst, solitary or simple hepatic cysts, and von Meyenburg complex.1, 2 Portal hypertensive-cholangitic or primarily cholangitic forms of CHF infrequently occur with patients having recurrent bouts of cholangitis with or without jaundice in addition to portal hypertension. Treatment of CHF is aimed at correction of the portal hypertension, i.e., performance of surgical shunts, and therapy of cholangitis. DPM is a persistence of excess embryonic bile ducts in a ductal plate configuration; it may also affect some or all levels of the nephron.2 DPM may affect all levels of the intrahepatic biliary tree. It seems to often be associated with the progressive destruction of immature intrahepatic bile ducts which gives rise to the anatomical-clinical-pathologic entities of CHF and Caroli's disease, among others. When CHF and Caroli's disease occur concurrently, it is termed Caroli's syndrome. CHF represents a DPM of the interlobular bile ducts. Upon microscopic examination, there is diffuse portal fibrosis, the bands of which vary in thickness. Small bile ducts may be scattered in the fibrous tissue; these may be slightly dilated and irregular in outline. Cholestasis is not a typical feature of CHF except in the cholangitic variant when neutrophils infiltrate the ducts and surrounding connective tissue.1, 2 This is shown in Fig. 1D (arrow denoting neutrophilic infiltrates). This may be difficult to differentiate from extrahepatic biliary obstruction with ascending infection. Paucity of portal vein branches may sometimes be noted and has been invoked as the cause of the portal hypertension. Because CHF is part of a spectrum of the diseases of DPM, associated histological changes such as biliary cysts and changes characteristic of Caroli's disease may also be found on liver biopsy.