UNLABELLED

NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.

CLINICAL CHARACTERISTICS

Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized histologically by defective remodeling of the ductal plate (ductal plate malformation; DPM), abnormal branching of the intrahepatic portal veins, and progressive fibrosis of the portal tracts. CHF may or may not be associated with macroscopic cystic dilatation of the intrahepatic bile ducts. Clinical findings include enlarged, abnormally shaped liver, relatively well-preserved hepatocellular function, and portal hypertension (PH) resulting in splenomegaly, hypersplenism, and gastroesophageal varices. Pulmonary hypertension (portopulmonary hypertension) and vascular shunts in the pulmonary parenchyma (hepatopulmonary syndrome), complications of PH, can also be seen rarely. Most frequently CHF is associated with ciliopathies (disorders of the primary cilia) that have associated renal disease, the so-called hepatorenal fibrocystic diseases (FCDs). Although the hepatorenal FCDs are currently classified by phenotype, it is likely that gene-based classification will be quite different in the future because of the tremendous genetic and phenotypic overlap between these disorders.

DIAGNOSIS/TESTING: CHF is typically diagnosed by finding increased echogenicity of the liver parenchyma with or without macrocysts on ultrasound examination; MRI including magnetic resonance cholangiopancreatography (MRCP) may also be used. Liver biopsy is rarely required. The multisystem syndromes associated with hepatorenal FCDs are diagnosed by physical examination or other specialized studies, family history, and molecular genetic testing.

GENETIC COUNSELING

The syndromes associated with CHF are most commonly inherited in an autosomal recessive manner; however, X-linked and autosomal dominant inheritance are also observed. Genetic counseling depends on accurate determination of the specific genetic diagnosis.

MANAGEMENT

No therapies can repair the primary ductal plate malformation or reverse the fibrosis or biliary tree abnormalities. Complications of CHF, including variceal bleeding, hypersplenism, cholangitis, and, to a lesser extent, biliary stones, cholangiocarcinoma, and hepatocellular carcinoma, are treated in a routine manner. Immunization for hepatitis A and B. Monitor growth rate in children; screen for gastroesophageal varices and hepatopulmonary syndrome when the platelet count decreases significantly over time or prior to interventions such as renal transplantation. Alcohol, obesity, diabetes mellitus, malnutrition, infection with human immunodeficiency virus (HIV), immunosuppression, hepatotoxic medicines, nonsteroidal anti-inflammatory drugs (NSAIDs) in those with varices because of the increased risk of bleeding, contact sports/activities in those with splenomegaly because of the increased risk of splenic injury.