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Congenital Hepatic Fibrosis

Congenital hepatic fibrosis is a genetic (inherited) disorder that primarily affects the liver and kidneys. The condition can cause the liver, kidney and bile ducts to form abnormally before birth, and may also cause fibrosis (scarring) of the liver.

Bile ducts transfer bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In congenital hepatic fibrosis, these ducts may be narrow, malformed or reduced in number. Bile may build-up in the liver and cause scarring that prevents the liver from working properly to eliminate wastes from the bloodstream.

Hepatic fibrosis may also lead to the enlargement of the spleen, and the development of varicose veins at the base of the food pipe can result in vomiting blood. Abnormal liver function may lead to the malabsorption of nutrients.

Congenital hepatic fibrosis may be associated with other congenital (present at birth) defects, most commonly with polycystic kidney disease. Some researchers believe these two conditions might be the same disorder but with different presentation. The estimated prevalence of congenital hepatic fibrosis is one in 10,000 - 20,000 newborns, making it a relatively rare condition.

The goal of SSM Health Cardinal Glennon Children’s Hospital team is to provide families with the knowledge, support and options to make the best decisions for their loved ones. If your child has been diagnosed with hepatic fibrosis, call us today at 314-268-4010 to schedule an appointment to learn how we can help!

Signs & Symptoms of Pediatric Hepatic Fibrosis

The effects of congenital hepatic fibrosis can vary greatly depending on the child, with symptoms ranging from severe to so mild they go unnoticed. Some affected people may only experience isolated signs of the disorder.

Liver problems are usually the first sign of this condition, and typically become noticeable in adolescence or young adulthood, though symptoms can present from early childhood onward.

The general signs of liver fibrosis are usually present as the condition becomes more advanced, such as jaundice (yellowing of the skin and eyes), nausea and loss of appetite, unexplained weight loss/failure to thrive in young children and fluid buildup in legs or stomach.

Symptoms more specific to this condition may include:

  • Swollen abdomen
  • Enlarged and/or abnormally shaped liver
  • Enlarged spleen
  • Gastrointestinal bleeding
  • Infection of the bile ducts
  • Hard deposits in the gallbladder or bile ducts (gallstones)

Diagnosis of Congenital Hepatic Fibrosis

As noted, congenital hepatic fibrosis is present from birth, and usually diagnosed as symptoms become more prevalent.

This condition is most often diagnosed with imaging exams (ultrasound and/or MRI of the liver and kidneys) or liver biopsy. Genetic testing may also be recommended.

Treatment Options for Congenital Hepatic Fibrosis

There is no cure for this condition, but there are various treatment options available, and the prognosis for most children is favorable. Therapy is focused primarily on treating the symptoms of the disease, like gastrointestinal bleeding and nutritional complications. With proper care, most people with congenital hepatic fibrosis enjoy healthy, normal lives!

Liver Transplant

A child’s long-term outlook depends on how severely they are affected by congenital hepatic fibrosis. If the liver damage is extensive, patients may eventually develop advanced liver disease and require a liver transplant.

We recognize that the diagnosis of congenital hepatic fibrosis affects a family greatly, and our hope is to be able to provide families with the resources they need during a difficult and overwhelming time! SLUCare Physician Group surgeons at Cardinal Glennon Children’s Hospital are here to support you every step of the way and can help you navigate your child's care. Call us today at 314-268-4010 to schedule an appointment or to request a second opinion.

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