Primary sclerosing cholangitis is a rare disorder of the bile ducts in the liver. According to the National Library of Medicine, the condition occurs in one of every 10,000 people and affects twice as many men as women.

What Is Primary Sclerosing Cholangitis?

Bile is a digestive fluid produced in the liver and stored in the gallbladder that helps the body absorb fats in food. The bile ducts are small tubes that carry bile to the small intestine.

Primary sclerosing cholangitis slowly progresses through several stages. Initially, the condition causes inflammation that leads to scarring, or sclerosis, of the bile ducts, which gradually become narrow and eventually blocked. A lack of bile in the digestive system leads to other health problems such as osteoporosis due to fat-soluble vitamin deficiencies. Over time, bile accumulates in the liver, causing chronic liver disease, known as cirrhosis, and eventually liver failure. In addition, primary sclerosing cholangitis increases the risk of bile duct cancer and gallbladder cancer.

Causes of Primary Sclerosing Cholangitis

The exact cause of primary sclerosing cholangitis is not known. It is likely due to a combination of genetic, environmental and immune system factors.

According to National Association for Rare Disorders, about 60 to 80 percent of people with primary sclerosing cholangitis also have inflammatory bowel disease, or IBD, usually in the form of ulcerative colitis. People with primary sclerosing cholangitis are also more likely to have other autoimmune disorders such as celiac disease, thyroid disease or type 1 diabetes. The reasons these conditions are linked are not clear.

Signs and Symptoms of Primary Sclerosing Cholangitis

Primary sclerosing cholangitis often does not cause symptoms in the early stages. When symptoms do begin to occur, they may include:

• abdominal pain
• fatigue
• itchy skin
• jaundice (yellowing of skin and eyes)

As the condition slowly worsens, PSC can cause symptoms of cirrhosis and liver failure, such as:

• difficulty thinking, confusion, memory problems
• fluid accumulation in the abdomen
• enlarged spleen
• internal bleeding due to enlarged or swollen abdominal veins
• portal hypertension, or high blood pressure in the portal vein, a major blood vessel of the liver
• swelling in legs and feet
• unintended weight loss

How Is Primary Sclerosing Cholangitis Diagnosed?

A routine blood test may reveal initial signs of primary sclerosing cholangitis before symptoms occur. In addition to a review of personal and family history and physical examination, diagnostic tests may include:

• antibody blood test for related immune system proteins
• blood tests of liver enzymes and white blood cell levels.
• imaging tests such as a computed tomography (CT) scan, MRI, ultrasound and X-rays.
• liver function tests
• special imaging studies of the liver and bile ducts, such as endoscopic retrograde cholangiopancreatography (ERCP), magnetic resonance cholangiopancreatography (MRCP) or transient elastography

In addition, a liver biopsy, which is the surgical removal and examination of a small tissue sample, may be needed to confirm a diagnosis of primary sclerosing cholangitis and determine the extent of liver damage.

Treatments for Primary Sclerosing Cholangitis

Currently, no medication or medical therapy can cure primary sclerosing cholangitis or stop its progression. Liver transplant—the only potential cure—is reserved for end-stage liver disease cases and may be only considered after all other treatments have failed.

Treatment focuses on managing symptoms and minimizing complications. Options may include:

• antibiotics for bile duct infections
• dietary supplements to address vitamin deficiencies
• medications to treat specific symptoms, such as ointments for itchy skin
• procedures to help open narrowed or blocked bile ducts, such as endoscopic retrograde cholangiopancreatography (ERCP) or percutaneous transhepatic cholangiography