Liver Disease

Congenital Liver Defects

What are congenital liver defects?

Defects of the liver at birth usually affect the bile ducts. Though rare, some congenital liver defects include:

biliary atresia - a condition where the bile ducts are absent or have developed abnormally
choledochal cyst - a malformation of the hepatic duct that can obstruct flow of bile in infants

What are the indicators that a congenital liver defect may be present?

Congenital liver defects that affect the flow of bile share some common symptoms. The following are the most common symptoms. However, each individual may experience symptoms differently:

jaundice
dark urine
pale stool

The symptoms of congenital liver defects may resemble other conditions or medical problems. Consult a physician for diagnosis.

How are congenital liver defects diagnosed?

Congenital liver defects that affect the flow of bile are usually diagnosed at birth or shortly afterward. In addition to a complete medical history and medical examination, diagnostic procedures for a congenital liver defect may include:

specific laboratory tests
liver function tests
liver biopsy

Treatment for congenital liver defects:

Specific treatment will be determined by your physicians based on:

your overall health and medical history
extent of the disease
your tolerance for specific medications, procedures, or therapies
expectations for the course of the disease
your opinion or preference

Treatment may include surgery to reconstruct or bypass the bile ducts. Sometimes a liver transplant may be necessary.

This page was last updated on: February 6, 2008.

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