Congenital Hepatic Fibrosis Clinical Presentation

  • Author: Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: Mar 8, 2010
 

History

The onset of congenital hepatic fibrosis (CHF) symptoms varies in spectrum and severity. Patients usually develop nonspecific symptoms, making the initial diagnosis difficult. The age at presentation may range form early childhood to the fifth decade of life. However, most cases however are diagnosed during adolescence and early adulthood.

  • Congenital hepatic fibrosis has 4 different forms: portal hypertensive (most common), cholangitic, mixed, and latent. Patients in the portal hypertensive group often present with esophageal variceal hemorrhage. Those with the cholangitic form have characteristic cholestasis and recurrent cholangitis. Patients with the latent form present at an older age or are diagnosed as an incidental finding.
  • Most patients initially manifest with symptoms and signs of portal hypertension. These include hematemesis and melena.
  • When hepatic lesions dominate the clinical expression of the disease, the affected child may remain asymptomatic for years before evidence of hepatic involvement manifests as a sequela of portal hypertension with repeated episodes of GI bleeding of varying severity.
  • Rarely, patients may present with abdominal pain localized to the right upper quadrant.
  • The presentation of children with congenital hepatic fibrosis–autosomal recessive polycystic kidney disease (ARPKD) also varies, depending on the severity of kidney and liver disease.
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Physical

  • Portal hypertension may be the initial manifestation that leads to the identification of autosomal dominant polycystic kidney disease (ADPKD).
  • Hepatomegaly is present in nearly all patients with predominant involvement of the left lobe. Upon palpation, the liver is firm, and its surface is smooth or finely nodular. The liver edge is sometimes irregular, suggesting cirrhosis.
  • In most patients, splenomegaly is associated with evidence of hypersplenism.
  • Nephromegaly is a common finding during a physical examination in patients with congenital hepatic fibrosis and ARPKD.
  • Abdominal pain is rare; when present, it is usually localized to the right upper quadrant.
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Causes

  • Congenital hepatic fibrosis is an autosomal recessive disorder.
  • No definite cause or causative agent has been identified.
  • Transforming growth factor-1 and thrombospondin-1 may play a role in the pathogenesis of liver fibrosis in patients with congenital hepatic fibrosis.[9]
  • Abundant connective tissue growth factor retained diffusely in heparan sulfate proteoglycan in the fibrous portal tracts or septa may be responsible for nonresolving hepatic fibrosis in congenital hepatic fibrosis.[10]
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Contributor Information and Disclosures
Author

Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H  Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, Bushnaq Medical Centre, University of Jordan

Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H is a member of the following medical societies: Royal College of Paediatrics and Child Health, Royal College of Physicians, Royal College of Surgeons in Ireland, Royal College of Surgeons of Edinburgh, and Royal Society of Tropical Medicine and Hygiene

Disclosure: Nothing to disclose.

Coauthor(s)

Dena Nazer, MD  Medical Director, Child Protection Center, Children's Hospital of Michigan; Assistant Professor, Wayne State University

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, SUNY-Downstate Medical Center

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; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

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.

References

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  7. Losekoot M, Haarloo C, Ruivenkamp C, et al. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet. Nov 2005;118(2):185-206. [Medline].

  8. Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol. Feb 2009;39(2):100-11. [Medline].

  9. El-Youssef M, Mu Y, Huang L, et al. Increased expression of transforming growth factor-beta1 and thrombospondin-1 in congenital hepatic fibrosis: possible role of the hepatic stellate cell. J Pediatr Gastroenterol Nutr. Apr 1999;28(4):386-92. [Medline].

  10. Ozaki S, Sato Y, Yasoshima M, et al. Diffuse expression of heparan sulfate proteoglycan and connective tissue growth factor in fibrous septa with many mast cells relate to unresolving hepatic fibrosis of congenital hepatic fibrosis. Liver Int. Aug 2005;25(4):817-28. [Medline].

  11. Abdullah AM, Nazer H, Atiyeh M, Ali MA. Congenital hepatic fibrosis in Saudi Arabia. J Trop Pediatr. Oct 1991;37(5):240-3. [Medline].

  12. Arikan C, Ozgenc F, Akman SA, et al. Impact of liver transplantation on renal function of patients with congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease. Pediatr Transplant. Dec 2004;8(6):558-60. [Medline].

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  14. Al-Bhalal L, Akhtar M. Molecular basis of autosomal recessive polycystic kidney disease (ARPKD). Adv Anat Pathol. Jan 2008;15(1):54-8. [Medline].

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  17. Brancatelli G, Federle MP, Vilgrain V, et al. Fibropolycystic liver disease: CT and MR imaging findings. Radiographics. May-Jun 2005;25(3):659-70. [Medline].

  18. Gocmen R, Akhan O, Talim B. Congenital absence of the portal vein associated with congenital hepatic fibrosis. Pediatr Radiol. Sep 2007;37(9):920-4. [Medline].

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  23. Yonem O, Ozkayar N, Balkanci F, et al. Is congenital hepatic fibrosis a pure liver disease?. Am J Gastroenterol. Jun 2006;101(6):1253-9. [Medline].

 
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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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