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Research & Innovation
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For the latest cutting-edge research, innovative collaborations and remarkable discoveries in child health, read stories from across all our areas of study in Q: Advances and Answers in Pediatric Health.
Pediatric Liver Center
Progressive Familial Intrahepatic Cholestasis (PFIC)
We see more, treat more and heal more kids than any other hospital in the region.
What is progressive familial intrahepatic cholestasis?
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disease that consists of six distinct disorders that are defined by a genetic defect in bile acid transport (flow) within the liver. Bile is made in and secreted from the liver. It helps with digestion, and it helps to rid the body of toxins.
The genetic defect leads to problems with bile acid secretion, which results in abnormal bile flow, liver damage and scarring. With PFIC, the liver cannot successfully secrete the bile, which results in the buildup of bile acids in liver cells, damaging these cells and causing liver disease.
What causes pediatric PFIC?
PFIC is inherited and the result of genetic mutations within various proteins associated with bile excretion. The genes that are affected are typically needed to keep the flow of bile moving throughout the body. With PFIC, the flow of bile becomes blocked and bile builds up in the body, which damages liver cells and introduces harmful waste into the blood stream. The abnormal bile flow also prevents fats and vitamins from being effectively absorbed into the blood stream.
Who gets PFIC?
The disease occurs in infancy and childhood and affects both genders and all ethnicities. For PFIC to occur, both parents must have the same genetic mutation. If both parents have the gene, there is a 25% chance that their child will develop the disease.
What are the signs and symptoms of PFIC?
Children with PFIC may experience:
- Severe itching
- Jaundice (yellowness of eyes and skin)
- Difficulty gaining weight
- Deficiencies in fat-soluble vitamins
- Liver scarring
What tests are used to diagnose PFIC?
Genetic testing is necessary to diagnose PFIC.
Why choose us to diagnose PFIC?
Our Pediatric Liver Center is one of the largest in the country and provides a fast and targeted approach to accurately diagnosing PFIC.
What to expect from genetic testing for PFIC
In order to perform genetic testing for PFIC, we will take a blood sample from your child and send it to a national laboratory that we partner with. We usually receive the test results within about 3 to 4 weeks.
How is PFIC treated?
The management of PFIC disease in infancy and childhood focuses on ensuring that your child gets enough fat and fat-soluble vitamins. To supplement this nutrition, we may recommend a special diet or vitamins as part of the treatment. To control severe itching, we prescribe medication. Part of the treatment also includes monitoring for cirrhosis (scarring of the liver).
Why choose us for PFIC treatment?
Our Pediatric Liver Center is at the forefront of caring for children with PFIC. We also spearhead research at the national level to understand the natural progression of this disease, as well as offer treatment trials with the goal of decreasing the severity of symptoms and protecting the liver from ongoing damage.
PFIC can become severe and results in the need for liver transplantation in about 50% of pediatric cases. The Pediatric Liver Transplant Program at Children’s Colorado achieves some of the best outcomes in the nation by working with every medical and surgical specialty in the hospital. Our specialized program is dedicated to the care of children who require liver transplantation and we have some of the best success rates in the nation.
Learn more about one family’s journey through the process of liver transplantation.
Helpful resources
- The American Liver Foundation (ALF) works to promote education, advocacy, support services and research for the prevention, treatment and cure of liver disease.
- The PFIC Advocacy & Resource Network supports research programs, provides educational materials, matches families for peer support and participates in advocacy opportunities.
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