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Congenital Hepatic Fibrosis Overview (Retired GeneReviews Chapter)

Retired chapter — historical reference. This is a retired GeneReviews® chapter, preserved here at the request of the ARPKD/CHF Alliance so the information remains available to families. It is provided for historical reference only and may be out of date; current medical information should come from your specialist.

Authors: Meral Gunay-Aygun, MD; William A. Gahl, MD, PhD; Theo Heller, MD.
Original posting: December 9, 2008 · Last update: April 24, 2014.
Source: GeneReviews®, University of Washington, Seattle (© 1993–2026). Read the archived chapter at NCBI Bookshelf.

Clinical Characteristics

Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system, characterized by defective remodeling of the ductal plate (ductal plate malformation), abnormal branching of the intrahepatic portal veins, and progressive fibrosis of the portal tracts.

Typical findings include an enlarged, abnormally shaped liver with relatively preserved hepatocellular function, and portal hypertension leading to splenomegaly, hypersplenism, and gastroesophageal varices. CHF frequently occurs together with ciliopathies and hepatorenal fibrocystic diseases.

Diagnosis & Testing

  • Ultrasound shows increased liver echogenicity, with or without macrocysts.
  • MRI/MRCP can reveal bile duct abnormalities and liver enlargement.
  • Liver biopsy (rarely needed) shows the characteristic ductal plate malformation.

CHF typically occurs alongside renal disease, including polycystic kidney disease or nephronophthisis.

Genetic Basis

CHF is rarely isolated. It is most often associated with:

  • Autosomal recessive polycystic kidney disease (ARPKD; PKHD1)
  • Nephronophthisis (multiple genes)
  • Joubert syndrome and related disorders
  • Bardet-Biedl syndrome
  • Meckel syndrome
  • Other ciliopathies

Inheritance depends on the underlying syndrome and may be autosomal recessive, autosomal dominant, or X-linked.

Management

There is no curative therapy for the underlying ductal plate malformation or fibrosis; management focuses on complications.

Treatment priorities:

  • Management of variceal bleeding (beta-blockers, banding)
  • Treatment of cholangitis (antibiotics)
  • Monitoring for hypersplenism
  • Screening for hepatopulmonary syndrome

Prevention & surveillance:

  • Hepatitis A and B immunization
  • Avoiding alcohol, NSAIDs (in those with varices), and other hepatotoxic medications
  • Monitoring growth and platelet counts
  • Screening for varices when platelet counts decline significantly
  • Regular ultrasound imaging and esophageal screening

Key Complications

  • Variceal hemorrhage (can occur at any age)
  • Complications of portal hypertension
  • Cholangitis (especially with Caroli syndrome)
  • Cholangiocarcinoma (rare in children)
  • Hepatocellular carcinoma (rare)

Differential Diagnosis

CHF must be distinguished from:

  • Cirrhosis (CHF preserves hepatic synthetic function)
  • Primary biliary cirrhosis
  • Primary sclerosing cholangitis
  • Caroli disease (cystic bile duct dilation without CHF)
  • Autosomal dominant polycystic liver disease

Resources

ARPKD/CHF Alliance — 800-708-8892 · info@arpkdchf.org · www.arpkdchf.org
American Liver Foundation — 800-465-4837 · www.liverfoundation.org

Read the full original chapter

The complete, unabridged chapter remains available at its original source. This summary preserves the key points; the link below opens the full text.

📖 Read the full Congenital Hepatic Fibrosis Overview at NCBI Bookshelf →

This chapter is retired and provided for historical reference only. Current clinical recommendations should be verified with up-to-date sources and your medical team.

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