Primary Sclerosing Cholangitis

What is PSC?

Primary sclerosing cholangitis (PSC) is a rare, chronic disease that causes inflammation and scarring of the bile ducts outside and/or inside the liver. The liver makes bile that is carried by bile ducts to the small intestine. Bile is important for the absorption of fats and Vitamins A, D, E, and K. With PSC, bile stays in the liver where it damages liver cells, leading to scarring and, sometimes, cirrhosis. The majority of children with PSC also have another autoimmune intestinal disease known as inflammatory bowel disease. As a parent, there is nothing you could have done to prevent PSC in your child.

What are the symptoms of liver disease in PSC?

When diagnosed, most children with PSC are in the early stages of the disease process and don’t exhibit symptoms. However, initial symptoms that may develop include:

  • Fatigue
  • Intense, persistent pruritus (itching)
  • Pain on right side or middle of abdomen
  • Jaundice (yellowing of eyes and/or skin)
  • Elevated liver blood tests
  • Hepatomegaly (an enlarged liver)
  • Splenomegaly (an enlarged spleen)
  • Most children with PSC have inflammatory bowel disease (IBD), usually ulcerative colitis or Crohn’s disease, which may present with:
  • Chronic diarrhea
  • Blood in the stool
  • Poor growth

How do you get PSC?

Although no one knows the cause of PSC, there appear to be genetic, environmental, and autoimmune components.

How is PSC diagnosed?

Your child may be diagnosed with PSC after a series of blood and/or imaging tests, or after a liver biopsy.

Blood tests: Liver tests, including alkaline phosphatase (ALP); conjugated and unconjugated bilirubin; gamma-glutamyl transpeptidase (GGT); alanine aminotransferase (ALT); aspartate aminotransferase (AST); total protein; albumin; prothrombin time (PT) / international normalized ratio (INR).

Imaging tests:

  • Ultrasound of the liver and bile ducts
  • Magnetic resonance cholangiopancreatography (MRCP): most common diagnostic
  • imaging study, noninvasive, with no radiation exposure,
  • Endoscopic retrograde cholangiopancreatography (ERCP): rarely needed to diagnose PSC, more invasive, with radiation exposure.

Liver biopsy indications:

  • To test for autoimmune hepatitis (AIH) in the AIH/PSC overlap syndrome.
  • To determine the amount of fibrosis or scarring
  • To identify small duct only PSC (a type of PSC that can only be seen by a pathologist examining the liver tissue)

What is the treatment for PSC?

There are currently no FDA-approved treatments for PSC. Therapies that children with PSC may need include fat soluble vitamin supplementation (Vits A, D, E and/ or K) and medications to treat itching.

Researchers’ understanding of the efficacy of drugs for PSC is constantly changing. Several promising new drugs for the treatment of PSC are in various stages of development in adults and may be ready for trials in pediatric PSC patients in the future.

About 15% of children may need a liver transplant for PSC before age 18 years. There is no reliable way to predict who will have progressive disease leading to the need for liver transplant in childhood.

What is the outlook for someone with PSC?

The majority of children with PSC have a normal quality of life and do not experience any liver-related symptoms or pain. Children with progressive disease may require more frequent monitoring, clinic visits, hospitalizations, and, in some cases, liver transplantation.

Does the ChiLDReN Network have any studies that include patients with PSC?

Yes.  The ChiLDReN Network has one current study for children with PSC. This is a natural history study aimed at acquiring information and data that will provide a better understanding of this rare condition. Participants will be asked to allow study personnel to obtain information from medical records and to perform an interview. This protocol also entails the collection of blood, stool, MRCP images and tissue samples that were previously obtained based on clinical indications. These research biospecimens are being collected in order to aid in our understanding of the cause of this disease and to improve the diagnosis and treatment of children with PSC. All of the information obtained in this study is confidential and no names or identifying information are used in the study.

Information on this study is available at ClinicalTrials.gov #NCT04181138

The purposes of this study are to:

  • Collect medical and other data to learn more about PSC, how it progresses, and identify factors that may cause the disease to progress more quickly. Children with PSC who join this study at one of the participating clinical sites in the Childhood Liver Disease Research Network (ChiLDReN) will be asked to contribute information, DNA, and other specimens. The information and specimens will be available to investigators to carry out approved research aimed at learning more about the possible causes and long-term effects of PSC. This data will help inform future drug intervention trials in pediatric PSC.
  • Ask questions about how PSC symptoms affect your child's life to learn more about its impact on your child's daily functioning.
  • To better understand imaging options for patients with PSC and how they can help doctors track the progression of PSC in children.

Are there any organizations or foundations that help families dealing with PSC?

Yes.  The ChiLDReN Network works with numerous groups that support patients and families who are dealing with rare liver diseases.  Please click here to go to that page on our website (Information for Families).  You will see the list of groups and information about them.