Rare Classroom: Primary Sclerosing Cholangitis
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Rare Classroom: Primary Sclerosing Cholangitis

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Primary Sclerosing Cholangitis

What is Primary Sclerosing Cholangitis?

  • Primary sclerosing cholangitis (PSC) is a chronic, or long-term, disease that slowly damages the bile ducts. Bile is a digestive liquid that is made in the liver. It travels through the bile ducts to the gallbladder and the small intestine, where it helps digest fats and fatty vitamins.​
  • Impact on quality of life-in patients with PSC, which leads to significant psychologic burden that is expressed by existential anxieties and social isolation.​
  • An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide.​
  • Doctors can’t cure primary sclerosing cholangitis (PSC) or keep the disease from getting worse. They can treat narrowed or blocked bile ducts and the symptoms and complications of PSC, such as itchy skin, low vitamin levels, and bile duct infection.​
  • Doctors diagnose primary sclerosing cholangitis based on your medical and family history, a physical exam, and the results of medical tests, such as blood tests and imaging tests.
  • Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. ​
  • Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis.
  • Liver failure may occur 10-15 years after diagnosis​

How Do You Get It?

  • Factors that may increase the risk of primary sclerosing cholangitis include:
  • Your age. Primary sclerosing cholangitis can occur at any age, but it’s most often diagnosed between the ages of 30 and 50.
  • Your sex. Primary sclerosing cholangitis occurs more often in men
  • Inflammatory bowel disease. A large proportion of people with primary sclerosing cholangitis also have inflammatory bowel disease. Ulcerative colitis in particular may be the most significant risk factor.
  • Your ethnic background. People with Northern European heritage have a higher risk of primary sclerosing cholangitis.
  • The exact cause of primary sclerosing cholangitis is unknown.​

What Are The Symptoms?

  • The main symptoms of primary sclerosing cholangitis (PSC) are feeling tired or weak and having itchy skin. Other symptoms may include losing weight without trying, poor appetite, fever, and pain in the abdomen.
  • Signs and symptoms that may appear as the disease progresses include:​
    • Pain in the upper right part of the abdomen​
    • Fever​
    • Chills​
    • Night sweats​
    • Enlarged liver​
    • Enlarged spleen​
    • Weight loss​
    • Yellow eyes and skin (jaundice)​​
  • Complications may include:
    • Liver disease and failure. Chronic inflammation of the bile ducts throughout your liver can lead to tissue scarring (cirrhosis), liver cell death and, eventually, loss of liver function.
    • Thinning bones. People with primary sclerosing cholangitis may experience thinning bones (osteoporosis). Your doctor may recommend a bone density exam to test for osteoporosis every few years. Calcium and vitamin D supplements may be prescribed to help prevent bone loss.
    • Bile duct cancer. If you have primary sclerosing cholangitis, you have an increased risk of developing cancer in the bile ducts or gallbladder.
    • Colon cancer. People with primary sclerosing cholangitis associated with inflammatory bowel disease have an increased risk of colon cancer. If you’ve been diagnosed with primary sclerosing cholangitis, your doctor may recommend testing for inflammatory bowel disease, even if you have no signs or symptoms, since the risk of colon cancer is elevated if you have both diseases.​
    • Repeated infections. If scarring of the bile ducts slows or stops the flow of bile out of the liver, you may experience frequent infections in the bile ducts. The risk of infection is particularly high after you’ve had a surgical procedure to expand a badly scarred bile duct or remove a stone blocking a bile duct.
    • Portal hypertension. Your portal vein is the major route for blood flowing from your digestive system into your liver. Portal hypertension refers to high blood pressure in this vein. 
      • Portal hypertension can cause fluid from the liver to leak into your abdominal cavity (ascites). It can also divert blood from the portal vein to other veins, causing these veins to become swollen (varices). Varices are weak veins and tend to bleed easily, which can be life-threatening.

How Is It Treated?

  • A liver transplant is the only treatment known to cure primary sclerosing cholangitis. During a liver transplant, surgeons remove your diseased liver and replace it with a healthy liver from a donor.​ A liver transplant is reserved for people with liver failure or other severe complications of primary sclerosing cholangitis. Though uncommon, it’s possible for primary sclerosing cholangitis to recur after a liver transplant.
  • Treatments for itching:
    • Bile acid sequestrants. Medications that bind to bile acids — the substances thought to cause itching in liver disease — are the first line treatment for itching in primary sclerosing cholangitis.
    • Antibiotics. If you have trouble tolerating a bile acid-binding drug or if it doesn’t help, your doctor may prescribe rifampin (RifadinRimactane, others), an antibacterial drug. Exactly how rifampin reduces itching is unknown, but it may block the brain’s response to itch-inducing chemicals in your circulation.
    • Opioid antagonists. Itching related to liver disease may also respond to opioid antagonist drugs, such as naltrexone. Like rifampin, these drugs seem to reduce the itch sensation by acting on your brain.
    • Ursodeoxycholic acid (UDCA). Also known as ursodiol, UDCA is a naturally occurring bile acid that may help relieve itching symptoms caused by liver disease by increasing the absorbability of bile.
    • Antihistamines. This type of medication may help reduce mild itching caused by primary sclerosing cholangitis. Whether these medications are effective for this condition is unknown.
      • Antihistamines may worsen the liver disease symptoms of dry eyes and dry mouth. On the other hand, antihistamines can help with sleep if itching keeps you awake.
  • Treatment for infections:
    • Bile that backs up in narrowed or blocked ducts causes frequent bacterial infections. To prevent and treat these infections, people with primary sclerosing cholangitis may take repeated courses of antibiotics or continue taking antibiotics for long periods.
    • Before any procedure that could cause an infection, such as an endoscopic procedure or abdominal surgery, you’ll also need to take antibiotics.
  • Treatment for bile duct blockage:
    • Blockages that occur in your bile ducts may be due to disease progression but can be a sign of cancer of the bile duct. Endoscopic retrograde cholangiopancreatography (ERCP) can help determine the cause.
    • Balloon dilation. This procedure can open blockages in the larger bile ducts outside the liver. In balloon dilation, your doctor runs a slender tube with an inflatable balloon at its tip (balloon catheter) through an endoscope and into a blocked bile duct. Once the balloon catheter is in place, the balloon is inflated.
    • Stent placement. In this procedure, your doctor uses an endoscope and attached instruments to place a small plastic tube called a stent in a blocked bile duct to hold the duct open.
  • No pharmacologic therapy has been proven effective for primary sclerosing cholangitis (PSC). Drug therapy is aimed at treating symptoms and managing complications. Immunosuppressantschelators, and steroids are used in an attempt to control the disease process but have not shown significant benefit. Ursodeoxycholic acid (UDCA) improves the liver function profile in some patients and, in conjunction with endoscopic dilation, has shown a survival benefit in some studies.
  • Certain measures can help prevent further damage to the liver including:
    • Take your medicines and vitamins as directed​
    • If you smoke, quiit smoking​
    • Do not drink any alcohol or use illegal drugs​
    • Have regular checkups, as recommended by your doctor​
    • Talk with your doctor before taking​
      • prescription medicines​
      • over-the-counter medicines​
      • dietary supplements​​
    • Try to keep a healthy body weight​

Where Can I Learn More???