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 from 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.^[11]

Physical

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.

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.^[12]

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.^[13]

Differential Diagnoses

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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. 1999 Apr. 28(4):386-92. [QxMD MEDLINE Link].
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Al-Bhalal L, Akhtar M. Molecular basis of autosomal recessive polycystic kidney disease (ARPKD). Adv Anat Pathol. 2008 Jan. 15(1):54-8. [QxMD MEDLINE Link].
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Braga AC, Calheno A, Rocha H, Lourenco-Gomes J. Caroli's disease with congenital hepatic fibrosis and medullary sponge kidney. J Pediatr Gastroenterol Nutr. 1994 Nov. 19(4):464-7. [QxMD MEDLINE Link].
Brancatelli G, Federle MP, Vilgrain V, et al. Fibropolycystic liver disease: CT and MR imaging findings. Radiographics. 2005 May-Jun. 25(3):659-70. [QxMD MEDLINE Link].
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Media Gallery

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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Author

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

Hisham Nazer, MBBCh, 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. for: Abbott Nutritional, Abbvie, speakers' bureau.

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.