Primary Sclerosing Cholangitis

Primary sclerosing cholangitis (PSC) is a chronic condition in which the liver’s bile ducts become inflamed and scarred. Bile ducts carry bile, a liquid produced by the liver, to the intestines where it helps digest food. When a child has PSC, the bile ducts become narrow, making it difficult for bile to flow smoothly out of the liver. The abnormal flow of bile and build up of bile in the liver can cause chronic liver problems. Over time, PSC can cause serious liver damage, leading to cirrhosis liver failure. In severe cases, a person with PSC may need a liver transplant.

PSC is a rare condition, estimated to affect between 6 and 16 people out of every 100,000.

The liver is the second largest organ in the body, located in the abdominal cavity. The liver helps the body in many ways:

• Produces proteins that allow blood to clot normally, transport oxygen, and support the immune system
• Produces bile, a substance that helps digest food
• Stores extra nutrients
• Helps clean the bloodstream of harmful substances
• Helps control blood sugar and cholesterol levels

Children and adults can have PSC for 20 years or more with no noticeable symptoms. For those who do, symptoms include:

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

As the condition progresses, a person with PSC may develop symptoms of liver failure, including:

• Jaundice
• Pain or tenderness in the upper right abdomen
• Weakness
• Dark urine
• Confusion or disorientation
• Easy bleeding and bruising

Researchers have not determined what causes PSC. It may be an autoimmune disease — a disorder that causes the body’s immune system to attack healthy tissues — though that has not yet been proven.

The following factors may increase a child’s risk for PSC:

• Family history
• Male gender
• Autoimmune disease

Many people with PSC also have ulcerative colitis. PSC raises the risk for cancer of the gallbladder, bile duct, or colon.

The first steps in diagnosing PSC are a physical exam and medical history. During the physical exam, the doctor will look for look for signs of liver damage and bile duct infection. The doctor may ask if the child has had symptoms such as fatigue, itchiness, unexplained weight loss, or abdominal pain.

Information about the child’s and family’s health history will help the doctor assess the likelihood that a child has PSC. This may include whether any family members have PSC and whether the child has had inflammatory bowel disease or autoimmune disease.

If the results of the medical history and physical exam show that a child could have PSC, the following tests can help determine if the disease is present or not with more certainty:

Blood tests

• Liver function tests test the blood for signs of bile duct damage.

Imaging tests

• Endoscopic retrograde cholangiopancreatography: A clinician feeds a tube (endoscope) down the throat to the liver and injects dye into the bile ducts. The dye helps make bile ducts visible on an X-ray, which is taken with a tiny camera at end the endoscope. A clinician then examines the image for signs of blocked ducts. This procedure is typically performed with a sedative to help the child stay calm.
• Percutaneous transhepatic cholangiography: Another imaging test that uses dye to make bile ducts visible on an X-ray. In this case, dye is injected into the abdomen through the skin of the stomach and the X-ray is taken with a camera on the outside of the body.
• Magnetic resonance cholangiopancreatography: A diagnostic imaging exam that uses radio waves and a computer to create images of the bile ducts for clinicians to examine.

There is currently no cure for PSC. However, there are ways to treat affected bile ducts and treatments to relieve symptoms.

Treatments for narrow bile ducts

It is possible to open blocked bile ducts using endoscopic retrograde cholangiopancreatography. Instead of taking X-rays of the liver, the doctor passes tiny tools through the endoscope to open blocked ducts so bile can travel more easily through them and not get backed up in the liver.

Treatments to relieve symptoms

Depending on a child’s symptoms, the doctor may prescribe medication to relieve itching or antibiotics to treat a bacterial infection of the bile ducts.

Liver transplant

Many people with PSC eventually need a liver transplant. Doctors recommend transplant only after every other treatment option has been tried. Though the time frame differs for every person, children with PSC typically need a liver transplant 20 to 25 years after the first diagnosis.

Everyday habits to keep the liver healthy

The following habits can help keep children with PSC, and their livers, healthy longer:

• Eating a healthy diet
• Maintaining a healthy weight
• Getting vaccinated for hepatitis A and B
• Minimizing exposure to chemicals
• Taking no more than the recommended dosage of any over-the-counter or prescription medication
• Not drinking alcohol

The Center for Childhood Liver Disease at Boston Children’s Hospital specializes in helping infants, children, adolescents, and young adults with a wide variety of liver, gallbladder, and bile duct disorders (otherwise known as hepatobiliary). Doctors refer children with liver disease to our program at Boston Children’s Hospital from all over the world.