eMedicine Specialties > Pediatrics: General Medicine > Gastroenterology

Congenital Hepatic Fibrosis: Differential Diagnoses & Workup

Author: Hisham Nazer, MBBCh, FRCP, Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, Bushnaq Medical Centre, University of Jordan
Coauthor(s): Dena Nazer, MD, Fellow, Child Protection Center, Children's Hospital of Michigan
Contributor Information and Disclosures

Updated: Mar 31, 2008

Differential Diagnoses

Caroli Disease
Polycystic Kidney Disease

Other Problems to Be Considered

Other ductal plate malformations (eg, biliary cysts, Caroli Disease, choledochal cyst)

Workup

Laboratory Studies

  • Liver function tests
    • Liver enzyme levels are usually within the reference range when uncomplicated by portal hypertension or cholangitis.10
    • Serum alkaline phosphatase and gamma-glutamyl transpeptidase (GGT) levels may be elevated.
    • In the presence of cholangitis, serum bilirubin levels, alanine aminotransferase (ALT) levels, aspartate aminotransferase (AST) levels, WBCs, and the erythrocyte sedimentation rate (ESR) may be elevated.
  • Hypersplenism
    • The presence of leukopenia and thrombocytopenia provides evidence of hypersplenism.
    • Splenic pressure is elevated.
  • Renal function
    • Renal dysfunction is present in approximately 20% of patients.
    • In the presence of renal involvement, serum urea and serum creatinine levels are elevated, whereas creatinine clearance is decreased.

Imaging Studies

Characteristic imaging features are generally present, and increased recognition of these findings may obviate the need for routine liver biopsy while preserving diagnostic accuracy.

  • Ultrasonography
    • This study helps to further support the diagnosis by revealing evidence of a patchy pattern of intense hepatic echogenicity, portal hypertension, splenomegaly, and duplication of the intrahepatic vasculature. It is the first-line modality used in the diagnostic process because of its lack of radiation and its capability of detecting renal and liver abnormalities.
    • Ultrasonographic evaluation should include Doppler flow studies to assess the patency of the portal vasculature.
    • Evidence of nephromegaly and increased echogenicity with polycystic changes add further support to the diagnosis of congenital hepatic fibrosis (CHF)-ARPKD.
    • Ultrasonography of liver and kidneys are also indicated as part of preparation for liver and renal biopsies.
  • CT scanning: CT scanning of the abdomen is occasionally indicated as part of the imaging studies for further evaluation of hepatic and renal involvement in CHF. Patients with CHF typically have imaging evidence of liver morphologic abnormalities, varices, splenomegaly, renal lesions, and other associated ductal plate abnormalities.11
  • Intravenous pyelography
    • Intravenous pyelography (IVP) findings may be abnormal, revealing nephromegaly and alternation of radiodense and radiolucent streaks radiating from the medulla to the cortex.
    • This study is not mandatory for the diagnosis of CHF with potential renal involvement.
  • Splenoportography
    • This study may reveal an abnormality of the intrahepatic portal venous system characterized by duplication of the venous channels.
    • Naturally occurring splenorenal or gastrorenal shunts with increasing collateral formation may also be observed.
  • Angiography
    • This test further reveals the details of the vascular anatomy and its patency, as well as the extent of the variceal formation.
    • Transhepatic cholangiography is a safe and direct means of identifying cholangitis.
  • MRI and magnetic resonance cholangiopancreatography: Magnetic resonance cholangiopancreatography (MRCP) is described as a sensitive method for detecting biliary abnormalities, even when ultrasonographic findings are normal. It may reveal the unusual distribution of the biliary tree with mild dilatation peripherally and poor visibility centrally. MRI can reveal portal hypertension and periportal fibrosis and may help in the preoperative planning of the affected children with the cholangitic form of CHF, obviating the need for invasive cholangiography.

Procedures

  • Endoscopic examination
    • Upper GI endoscopy is often required in the overall evaluation of patients with CHF, especially in the presence of anemia and/or a history of hematemesis or melena.
    • Endoscopy is helpful to confirm or rule out the presence of varices, erosions, or ulceration.
    • In bleeding varices, the procedure is followed by sclerotherapy or band ligation.
  • Liver biopsy
    • The diagnosis of CHF depends on histological liver biopsy findings, preferably obtained through minilaparotomy (wedge liver biopsy) to ensure examination of a sufficient number of portal tracts to support the diagnosis.
    • A percutaneous liver biopsy may produce sufficient tissue to confirm the diagnosis; findings may reveal the histological changes in the portal tracts. Remember that the pathological lesions may not be uniform throughout the liver; therefore, the percutaneous liver biopsy may prove inadequate to support the diagnosis. Furthermore, cases with one-lobe involvement have been reported.
    • CHF is characterized by fibrous enlargement of the portal tracts, which contain variable numbers of abnormally shaped bile ducts.

Histologic Findings

Liver histology, as revealed through the biopsy, reveals extensive hepatic fibrosis. The widened fibrous bands in the portal tract contain an increased number of ectatic and dysplastic branches of the interlobular bile ducts. The irregularly shaped proliferating bile ducts are lined by normal cuboidal epithelium. The hepatic lobules are usually normal (see Media file 1). Cholestasis is observed in association with cholangitis. Other findings include portal vein branch hypoplasia and degeneration of the bile duct epithelium. Hypoplasia of the portal vein branches in association with supernumerous hepatic artery branches is also observed.

More on Congenital Hepatic Fibrosis

Overview: Congenital Hepatic Fibrosis
Differential Diagnoses & Workup: Congenital Hepatic Fibrosis
Treatment & Medication: Congenital Hepatic Fibrosis
Follow-up: Congenital Hepatic Fibrosis
Multimedia: Congenital Hepatic Fibrosis
References
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References

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Further Reading

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Keywords

congenital hepatic fibrosis, CHF, biliary fibroadenomatosis, hepatic fibroangioadenomatosis, fibrous angio adenomatosis, ductal plate malformation, autosomal recessive polycystic kidney disease, ARPKD, portal hypertension, renal cystic disease, Caroli disease, autosomal dominant polycystic kidney disease, ADPKD, cholangitis, hematemesis, melena, cholestasis, hepatomegaly, cirrhosis, hypersplenism, nephromegaly

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Contributor Information and Disclosures

Author

Hisham Nazer, MBBCh, FRCP, Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, Bushnaq Medical Centre, University of Jordan
Hisham Nazer, MBBCh, FRCP is a member of the following medical societies: Royal College of Paediatrics and Child Health and Royal College of Physicians
Disclosure: Nothing to disclose.

Coauthor(s)

Dena Nazer, MD, Fellow, Child Protection Center, Children's Hospital of Michigan
Dena Nazer, MD is a member of the following medical societies: Ambulatory Pediatric Association and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

Chris A Liacouras, MD, Director of Pediatric Endoscopy, Department of Pediatrics, Division of Gastroenterology and Nutrition, Associate Professor, Children's Hospital of Philadelphia and University of Pennsylvania
Chris A Liacouras, MD is a member of the following medical societies: American Gastroenterological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

CME Editor

Steven M Schwarz, MD, FAAP, FACN, AGAF, Professor of Pediatrics, State University of New York, Downstate Medical Center College of Medicine; Distinguished Lecturer, New York Medical College, School of Public Health
Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research
Disclosure: TAP Pharmaceuticals Honoraria Speaking and teaching; Curemark, LLC Consulting fee Board membership

Chief Editor

Carmen Cuffari, MD, Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine
Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

 
 
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