Primary biliary cholangitis is a recurring medical condition that causes inflammation and eventual damage to the small bile ducts inside the liver. When the bile ducts are absent, a buildup of bile can damage the liver. In the long run, the harm inflicted can result in the formation of scar tissue in the liver, cirrhosis, and ultimately liver failure. It is thought that primary biliary cholangitis is an autoimmune issue according to the National Institutes of Health, in which the body has an excessively high amount of activity and assaults healthy, normal bile duct cells.

Does primary biliary cholangitis have another name?

Physicians and individuals seeking medical care often refer to primary biliary cholangitis as PBC. The disease used to be called primary biliary cirrhosis.

How common is primary biliary cholangitis?

It was estimated in 2014 that approximately 58 females for every 100,000 Americans and 15 men for every 100,000 Americans had primary biliary cholangitis.1

Who is more likely to develop primary biliary cholangitis?

Primary biliary cholangitis is more common in

• women than in men.
• people who are middle aged. The average age at diagnosis is 60.2
• people who are white compared with other racial or ethnic groups.
• people who have a parent or sibling—particularly an identical twin—with primary biliary cholangitis.

What other health problems do people with primary biliary cholangitis have?

Individuals suffering from primary biliary cholangitis may also be afflicted by various other autoimmune disorders, such as

• autoimmune thyroid diseases—conditions in which the immune system attacks the thyroid gland
• Raynaud’s disease NIH external link
• Sjögren’s syndrome NIH external link
• scleroderma NIH external link
• autoimmune hepatitis

Individuals suffering from primary biliary cholangitis may have a higher likelihood of getting urinary tract infections.

What are the complications of primary biliary cholangitis?

Common complications of primary biliary cholangitis include

• high blood cholesterol levels
• osteoporosis NIH external link, or loss of calcium from the bones
• low levels of fat-soluble vitamins NIH external link A, D, E, and K

These common complications can be prevented and treated.

Liver complications

Primary biliary cholangitis can cause harm to the liver, resulting in liver troubles.

Cirrhosis. In cirrhosis, the liver’s functioning is hindered due to its healthy tissue getting replaced by scar tissue. As cirrhosis gets worse, the liver begins to fail.

Portal hypertension. Portal hypertension is typically caused by the narrowing of the portal vein due to scarring from cirrhosis, causing a backup of blood which leads to an increased pressure in said vein. Nevertheless, individuals with primary biliary cholangitis may experience portal hypertension prior to having cirrhosis. When portal hypertension rises to a certain point, it can be accompanied by additional problems, including

• swelling in your legs, ankles, or feet, called edema
• buildup of fluid in your abdomen, called ascites
• enlarged veins—called varices—in your esophagus, stomach, or intestines, which can lead to internal bleeding if the veins burst
• confusion or difficulties thinking caused by the buildup of toxins in your brain, called hepatic encephalopathy

Liver failure. The progression of cirrhosis could result in end-stage liver disease, commonly known as liver failure. The liver is severely harmed to the point of ceasing functioning in instances of liver failure. People with liver failure may require a liver transplant.

Liver cancer. Studies indicate that individuals suffering from cirrhosis brought on by primary biliary cholangitis, along with men with the same condition, are more likely to experience liver cancer, as indicated by the US National Institutes of Health (NIH).

Symptoms & Causes

What are the symptoms of primary biliary cholangitis?

The most common symptoms of primary biliary cholangitis are

• feeling tired
• itchy skin

Other symptoms may include

• discomfort or pain in the upper-right side of your abdomen
• joint pain or arthritis NIH external link
• symptoms of other health problems that may occur along with primary biliary cholangitis, such as dry eyes and dry mouth due to Sjögren’s syndrome NIH external link

As the disease gets worse, symptoms may include

• darkening of skin color
• fatty deposits that appear as yellow bumps on the skin, called xanthomas
• symptoms of cirrhosis, such as edema, jaundice, and weight loss

A lot of people do not display any indications of having primary biliary cholangitis when it is first found. Approximately 60% of individuals with primary biliary cholangitis are detected by medical professionals before signs appear. People with primary biliary cholangitis and no outward manifestations can be identified through blood tests. In some cases, it can be years after a diagnosis of primary biliary cholangitis before any symptoms begin to appear.

What causes primary biliary cholangitis?

Experts aren’t sure what causes primary biliary cholangitis. Research indicates that certain genes can increase a person’s susceptibility to the illness. Individuals who possess certain genetic makeup may develop an autoimmune condition where their immune system mistakenly assaults their small bile ducts in the liver when exposed to certain environmental factors, thus resulting in primary biliary cholangitis.

Possible environmental triggers include

• infections
• cigarette smoking
• exposure to certain chemicals

Diagnosis

How do doctors diagnose primary biliary cholangitis?

Medical professionals identify primary biliary cholangitis based on your past healthcare information, physical examination, and the outcome of medical exams.

Medical and family history

Your doctor will ask you about your symptoms. He or she will also ask

• whether you have a history of certain autoimmune diseases
• whether one of your parents or siblings has been diagnosed with primary biliary cholangitis
• whether you have a history of infections and exposure to certain chemicals

Physical exam

Your medical professional will examine your body, utilize a stethoscope to tune in to audibles in your stomach area, and strike or push down on explicit regions of your midsection. He or she will

• look for yellowing of the whites of your eyes and your skin
• check to see if your liver and spleen are larger than they should be
• check for abdominal tenderness or pain, particularly in the upper-right side of your abdomen

What tests do doctors use to diagnose primary biliary cholangitis?

Blood tests

A health care provider will draw blood from you and then send it to a laboratory for testing. Your doctor may recommend the following blood tests.

Anti-mitochondrial antibodies (AMA). Approximately 95% of individuals struggling with primary biliary cholangitis present with anti-mitochondrial antibodies in their bloodstream.4

Liver tests. Blood tests performed by the United States National Institutes of Health can reveal peculiar liver enzyme amounts, suggesting there may have been harm to the liver or gall system. A concentration of alkaline phosphatase beyond the average can be observed in those with maladies that disrupt or block the bile ducts, like primary biliary cholangitis.

Your physician can conclude you have primary biliary cholangitis if they can establish that your blood contains both elevated alkaline phosphatase levels and anti-mitochondrial antibodies, even if you aren’t exhibiting indications of the sickness.

Cholesterol. Individuals diagnosed with primary biliary cholangitis could have cholesterol levels that surpass the average.

Imaging tests

Your healthcare provider may employ imaging tests, such as x-rays and ultrasounds, as a way to identify primary biliary cholangitis by excluding other factors that may be causing damage to the bile ducts, including gallstones, bile duct strictures, and tumors.

Liver biopsy

A physician will take samples of liver tissue during a liver biopsy. A pathologist will examine the tissue with a microscope. Your doctor may perform a liver biopsy to

• rule out other diseases that may be causing your symptoms
• confirm the diagnosis of primary biliary cholangitis
• determine whether the disease is advanced—as shown by the amount of liver scarring or cirrhosis—or is very active

Related Disorders

Other diseases that may need to be ruled out include the following:

Primary sclerosing cholangitis (PSC)

Although the appellations of PBC and PSC are comparable, they are completely diverse sicknesses and should not be mistaken for each other. While Primary Biliary Cholangitis has an effect on the tiny channels within the liver, Primary Sclerosing Cholangitis is known to affect the bigger bile ducts within the liver. The consequence of this problem is that the large bile ducts become constricted, inflamed, and hardened, resulting in potential blockage and then demonstrating signs of fever, soreness, and yellowing of the skin. Jaundice can take place even when PSC is in its initial phases, and this is usually due to an obstruction of the major biliary tract, a contrast to the situation in PBC. Sometimes, confusion can arise between Primary Sclerosing Cholangitis (PSC) and Primary Biliary Cirrhosis (PBC) because both of them are associated with elevated alkaline phosphatase (a liver test indicative of bile duct injury). In the event that a person with a heightened alkaline phosphatase does not display an anti-mitochondrial antibody in the test and the biopsy does not appear to be PBC, one should proceed with a magnetic resonance cholangiopancreaticogram (MRCP). This examination is an MRI with magnetic resonance specialized in examining the bile ducts to verify if they are normal. If MRI scans produces oddly shaped bile ducts, it may be indicative of Primary Sclerosing Cholangitis.

Primary sclerosing cholangitis can cause the development of gallstones in the bile ducts as well as in the gallbladder. These stones can lead to a stoppage of flow, triggering fever, discomfort, and yellowness of skin and eyes. Sometimes an endoscopic retrograde pancreaticogram is necessary for patients. This special test can be used to open up blocked bile ducts or remove gallstones from them. Individuals affected by primary sclerosing cholangitis may require antibiotics in order to fight off infections of the bile ducts.

Autoimmune hepatitis (AIH)

Autoimmune Hepatitis (AIH) is a condition that may arise in some individuals who have either Primary Biliary Cirrhosis (PBC) or Primary Sclerosing Cholangitis (PSC). This ailment affects the liver tissue near the bile ducts and not the ducts themselves. The diagnosis of AIH usually requires a liver biopsy. Medications that can regulate an overly active immune system, such as steroids, azathioprine, 6-mercaptopurine, mycophenolate mofetil/sodium, tacrolimus, or cyclosporine, are utilized in the treatment of AIH. If you’d like to find out more about this ailment, enter “AIH” into the Rare Disease Database.

Non-alcoholic steatohepatitis (NASH)

NASH is a long-term issue which develops gradually and is typified by fatty build-up in the liver (hepatic steatosis), irritation or swelling of the liver (hepatitis) and/or the formation of scar tissue in the liver (fibrosis) that may potentially end up in cirrhosis. The liver inflammation can look the same as what is seen in liver disease caused by alcohol consumption. A few indications of the disorder can be pain in the top part of the abdomen, a liver that is bigger than usual (hepatomegaly), and/or higher than normal amounts of specific hepatic enzymes. The root of NASH is mysterious, yet it commonly appears in people who are overweight, suffer from diabetes, or have elevated fats in their blood. NASH has sometimes been seen linked to weakened physical health and malnourishment due to cancer, as well as a cause of cancerous cachexia.

Standard Therapies

In the year 2004, the US Food and Drug Administration (FDA) allowed the use of ursodiol (Urso), otherwise known as ursodeoxycholic acid (UDCA), for the management of Primary Biliary Cirrhosis (PBC). Axan Pharma and Schwarz Pharma US both make Ursodiol.

In 2016, the U.S. Food and Drug Administration approved obeticholic acid (Ocaliva) to help adults with primary biliary cholangitis (PBC) get better in two ways: in combination with ursodeoxycholic acid (UDCA) if they haven’t seen significant improvement while already taking UDCA, or on its own if they can’t tolerate taking UDCA. Obeticholic acid is manufactured by Intercept Pharmaceuticals Inc.

Other treatments for PBC are used to treat symptoms.

Pruritus (itching)

Medications beyond UDCA (Ursodeoxycholic acid) will typically be necessary to manage pruritus in Primary Biliary Cholangitis, as UDCA is typically not effective in relieving the itching. Cholestyramine and colestipol hydrochloride are usually the primary medications prescribed due to their ability to reduce itching in many individuals and their limited adverse reactions, with constipation being the most frequent. Other solutions for itching include rifampin (a former antibiotic that is no longer employed as an antibiotic since more efficient ones are available), gabapentin, sertraline, naltrexone, and fibrates. Anti-itch medications such as anti-histamines do not usually work.

In extremely rare cases, UV treatment and plasmapheresis (a form of blood cleaning that requires a medical intervention) may be necessary. In certain cases, none of the remedies are successful and the patient needs a liver transplant. This is very rarely done.

Fat Malabsorption

Treatment of malabsorption of fat-soluble vitamins could involve providing vitamin K, A, D, and calcium supplementation. Iron deficiency anemia responds to oral iron supplements. Supplementary folic acid should be supplied to people on cholestyramine due to the possibility that the drug can lead to an absence of folic acid. Folic acid and cholestyramine should be taken at different times since they could interact with each other and hinder the absorption of folic acid if consumed simultaneously. Stool containing an excessive amount of fat can be managed through a diet low in fat with the addition of medium-chain triglycerides in order to keep overall calorie intakes high.

Portal hypertension

The seriousness of the consequences of portal hypertension determines the type of treatment required. Salt limitation may be the only form of treatment required for slight cases of ascites. If ascites is severe, diuretics may be used to make the patient urinate more and reduce the amount of fluid buildup. Alternatively, paracentesis can be employed, which is a process in which the excess fluid is drained. Treatment of varices could involve beta blockers to reduce the pressure of the varices, or an endoscopic procedure that involves the use of a small camera inserted through the esophagus to shrink the vein. A laxative known as lactulose, or an antibiotic called rifaximin that does not get absorbed into the body, can be used to treat hepatic encephalopathy.