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Congenital Hepatic Fibrosis Workup

  • Author: Hisham Nazer, MB, BCh, FRCP, , DTM&H; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: Aug 21, 2015
 

Laboratory Studies

The following studies are indicated in congenital hepatic fibrosis:

  • Liver function tests
    • Liver enzyme levels are usually within the reference range when uncomplicated by portal hypertension or cholangitis.[14]
    • 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. Furthermore, thrombocytopenia and splenomegaly may be the only manifestations of the disease.
    • 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.
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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. Imaging is used in both initial diagnosis and follow-up of patients. However, the hepatobiliary imaging findings of congenital hepatic fibrosis may not be detected until later. The combination of conventional and high-resolution ultrasonography with magnetic resonance cholangiography allows the definition of the extent of liver and renal disease without requiring ionizing radiation and contrast agents.[10]

  • Ultrasonography
    • This study helps to further support the diagnosis by revealing evidence of a patchy pattern of intense hepatic echogenicity, portal hypertension, splenomegaly, and intrahepatic and extrahepatic biliary cysts and dilatations. 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.
    • Color Doppler ultrasonography assists in evaluating the portal venous system. It shows the direction of portal blood flow and varicose venous collaterals.
  • 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 congenital hepatic fibrosis. CT scanning can demonstrate the abnormal shape and size of the liver. It can also show the periportal thickening, varices, and splenomegaly. In patients with renal insufficiency, contrast medium is not administered, limiting the study.
  • 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 congenital hepatic fibrosis 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 congenital hepatic fibrosis, obviating the need for invasive cholangiography.
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Procedures

See the list below:

  • Endoscopic examination
    • Upper GI endoscopy is often required in the overall evaluation of patients with congenital hepatic fibrosis, 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 congenital hepatic fibrosis 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.
    • Congenital hepatic fibrosis is characterized by fibrous enlargement of the portal tracts, which contain variable numbers of abnormally shaped bile ducts.[15]
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Histologic Findings

See the list below:

  • 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 the image below.
    Histopathology of liver biopsy in congenital hepatHistopathology of liver biopsy in congenital hepatic fibrosis, which shows a widened portal tract with bands of fibrous tissue that separate areas of normal hepatic parenchyma. Note the multiple irregularly shaped narrow and elongated bile ducts and the absent lobular and portal inflammation.
  • 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.
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Contributor Information and Disclosures
Author

Hisham Nazer, MB, BCh, FRCP, , DTM&H Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MB, BCh, FRCP, , DTM&H is a member of the following medical societies: American Association for Physician Leadership, Royal College of Paediatrics and Child Health, Royal College of Surgeons in Ireland, Royal Society of Tropical Medicine and Hygiene, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

Coauthor(s)

Dena Nazer, MD, FAAP Assistant Professor of Pediatrics, Wayne State University School of Medicine; Chief, Child Protection Team, Children's Hospital of Michigan

Dena Nazer, MD, FAAP is a member of the following medical societies: Academic Pediatric Association, American Academy of Pediatrics, American Professional Society on the Abuse of Children, Ray E Helfer Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Chris A Liacouras, MD Director of Pediatric Endoscopy, Division of Gastroenterology and Nutrition, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania School of Medicine

Chris A Liacouras, MD is a member of the following medical societies: American Gastroenterological Association

Disclosure: Nothing to disclose.

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Histopathology of liver biopsy in congenital hepatic fibrosis, which shows a widened portal tract with bands of fibrous tissue that separate areas of normal hepatic parenchyma. Note the multiple irregularly shaped narrow and elongated bile ducts and the absent lobular and portal inflammation.
 
 
 
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