Congenital Hepatic Fibrosis Clinical Presentation

Updated: Apr 26, 2017
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: Carmen Cuffari, MD  more...
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Presentation

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]

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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.

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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. [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]

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