Primary Sclerosing Cholangitis

Overview

Primary sclerosing cholangitis (PSC) is a rare chronic disease that causes inflammation and scarring of the bile ducts. These are tubes that carry bile out of the liver (bile is a fluid that helps to break down fat in food). As scarring accumulates, the ducts become blocked, causing bile to build up in the liver and damage liver cells. If untreated, PSC can eventually cause liver failure or hardening of the liver, called cirrhosis. In either case, a liver transplant is needed.

We don't know why some children develop PSC, but research suggests it may be an autoimmune disease – a condition in which the immune system attacks healthy cells. Many children with PSC also have ulcerative colitis or, less often, Crohn's disease – autoimmune disorders that are both types of inflammatory bowel disease (IBD).

PSC affects boys more often than girls, and a family history of PSC or IBD increases a child's risk for developing the condition. We regularly screen children with IBD for signs of PSC so that we can start treatment promptly.

Children diagnosed with PSC need to be closely monitored, but with proper treatment, most can have a good quality of life.

UCSF's dedicated team of hepatologists (liver specialists) delivers cutting-edge, compassionate care for all kinds of liver disorders, including PSC. We monitor our PSC patients for any evolving problems related to the disease and address these issues proactively.

What's more, we are part of the Autoimmune Liver Disease Network for Kids (A-LiNK), a multicenter collaboration to improve the care and health of children and adolescents with PSC and other liver diseases.

Signs & symptoms

Symptoms of PSC are caused by poor drainage from the bile ducts. This can affect liver function and make bile seep into the bloodstream. In the early stages of PSC, your child may not experience any symptoms or may experience symptoms that come and go, such as:

• Fatigue (the most common symptom of PSC)
• Itchy skin
• Unexpected weight loss
• Abdominal pain
• Unexplained fever

As the condition progresses, symptoms of liver failure may develop, including:

• Jaundice (yellowing of the skin and eyes)
• Pain or tenderness in the upper abdomen
• Weakness
• Dark urine
• Confusion or disorientation
• Bleeding and bruising easily

Diagnosis

A doctor's first steps in diagnosing PSC are to perform a physical exam and take a medical history. If these suggest your child may have PSC, various tests will be ordered, such as:

• Blood tests that provide information about liver function.
• Noninvasive imaging tests (usually ultrasound or MRI) to obtain detailed images of the liver and bile ducts.
• A liver biopsy may be done to confirm a PSC diagnosis or to inform treatment decisions if lab tests and imaging are not conclusive. Guided by ultrasound imaging, the doctor inserts a needle through the skin of the abdomen and into the liver to extract a small tissue sample that will be examined under a microscope to assess liver damage. Children are sedated for the procedure, which takes about five minutes.
• Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that may be done when symptoms or tests suggest blocked bile ducts. The doctor passes an endoscope (a long, flexible tube equipped with a tiny camera) down the patient's throat to the liver and injects a special dye that shows up on X-rays. If the X-ray images reveal narrowing of the ducts, the diagnosis is confirmed. If they reveal a blockage, the doctor can pass instruments through the endoscope to reopen the duct. Children are sedated for an ERCP.

Treatment

There is no established cure for PSC, but with close monitoring and symptom management, most kids with PSC can enjoy the normal activities of childhood.

Treatments include:

• Medications to promote bile drainage and prevent bile duct injury
• Medications to relieve itching and jaundice
• Antibiotics to reduce inflammation and address infections in the bile ducts
• Supplements to correct vitamin A, D and K deficiencies, which are common in PSC
• Endoscopic retrograde cholangiopancreatography (ERCP) to open up narrowed or blocked bile ducts

In severe cases, PSC leads to irreversible liver damage or failure. When this occurs, a liver transplant is needed. UCSF's Liver Transplant Program is known for outstanding outcomes and some of the best survival statistics in the country. Our program helped pioneer techniques that have made transplantation safer and more successful. For some patients, liver transplantation cures PSC.