Overview of Primary Biliary Cirrhosis

Primary biliary cirrhosis is now known by a different name: primary biliary cholangitis (PBC). PBC is a chronic disease of the liver where the small bile ducts become damaged, and ultimately, destroyed, according to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).  

Bile plays an important role in your liver. It aids in the digestive process by breaking down fats, cholesterol, and fat-soluble vitamins in the small intestine. It also helps excrete waste products from the body, like old red blood cells and other metabolites, that are eliminated in the feces.

When your bile ducts are healthy, they carry the bile away from the liver. But when they’re not functioning correctly, the bile backs up into the liver, which eventually leads to impaired liver function and scarring. Sometimes, the scarring can be permanent.

Why does this happen? PBC is considered an autoimmune disease, which means the body is unable to recognize the difference between its healthy tissues and cells and foreign invaders, and it begins attacking healthy liver tissue.  

Symptoms

For PBC, the autoimmune process typically begins gradually, and the symptoms may go unnoticed. In fact, over half of all people with PBC have no complaints of symptoms upon diagnosis, and PBC may be detected when a blood test is performed for another reason.

But identifying the early signs and symptoms can improve treatment outcomes. NIDDK provides a detailed list of symptoms to keep in mind. In the early stage of the illness, symptoms include:

• Feeling tired
• Skin that itches
• Dry eyes and mouth

As the disease progresses, symptoms may include:

• Pain in the abdomen
• Nausea
• Reduced appetite
• A non-deforming type of arthritis
• Weakness
• Muscle and joint pain
• Weight loss
• Swollen legs, ankles, or feet
• Diarrhea
• Urine becomes darker
• Jaundice or a yellowing of the eyes and skin
• Patches of skin become raised

Another source also notes that the following symptoms may be present in later stages of the illness:

• Enlarged spleen
• Ascites or a condition where fluid builds up in the abdomen
• Hyperpigmentation of the skin that’s not related to spending time in the sun
• Osteoporosis, and sometimes, fractures
• Elevated cholesterol levels
• Hypothyroidism or an underactive thyroid

Even after a diagnosis of PBC, it may take people years before they develop symptoms, notes NIDDK.

Causes

The specific cause of the disease is unknown. Although PBC is described as an autoimmune disease, medical experts believe it may have genetic and environmental origins. The factors that may make a person more likely to develop PBC include:

• Sex: Women are more likely than men to develop PBC.
• Family history: If you have a family member who’s had PBC, you’re chances of getting it are higher.
• Location: People located in Northern Europe and North America are more likely to be diagnosed with the disease.
• Age: For most people, the age of onset for PBC occurs between 35 and 60, states the American Liver Foundation (ALF).
• Environmental Factors: Environmental factors that could increase the risk of developing PBC include acquiring a bacterial, fungal, or parasitic infection, smoking cigarettes, and exposure to toxic chemicals.

Diagnosis

Your healthcare provider will take a detailed history of your health, your family’s health, assess your symptoms, and perform a physical exam. Be sure to provide the healthcare provider with all relevant information, including if another member of your family has been diagnosed with PBC or you’ve been exposed to chemical toxins.

During the physical exam, the healthcare provider will check for the presence of an enlarged liver or spleen, listen to your abdomen through a stethoscope, and check for tender areas. When a person has PBC, pain may be present in the upper, right quadrant of the belly.  

Additionally, your healthcare provider may also ask you to complete a series of medical tests.

Anti-Mitochondrial Antibodies (AMA)

This is a blood test that examines the levels of anti-mitochondrial antibodies that form in response to the body’s mitochondria. Elevated levels are a hallmark symptom of PBC.

Liver-Specific Testing

Your healthcare provider may order blood tests to check for elevated liver enzymes, especially the enzyme alkaline phosphatase. High levels of this enzyme may indicate that a disease process is occurring in your liver or your liver and bile ducts have sustained damage.

If your lab work reveals elevated levels of AMA and liver enzymes, that could be enough information for your healthcare provider to diagnose you with PBC.

Cholesterol Testing  

If you have PBC, you might also have higher than normal cholesterol levels, which can alert your healthcare provider that your liver isn’t working well.

Additional Testing

Occasionally, the symptoms of PBC may overlap with those of other health conditions. In some cases, your healthcare provider may use specialized imaging technology, like an ultrasound, magnetic resonance elastography (MRE), or other instruments, to rule out diseases with a similar set of symptoms.

If a diagnosis of PBC continues to be uncertain, the healthcare provider may perform a liver biopsy to examine tissue from your liver and help confirm the disease.

Treatment

There’s no cure for PBC, but medication is aimed at slowing down the progression of the disease process of the liver. The drug that’s most commonly used is called ursodiol (also known as Actigall or Urso).

If ursodiol fails to work for PBC, a second medication, obeticholic acid (Ocaliva) may be of benefit. This medication has been shown to improve liver function when used alone or in combination with ursodiol. Other medications may be used to reduce inflammation in the liver, slow down the progression of the disease, and reduce the symptom of itching.

There may come a time in a person’s battle with PBC where the medications cease to control the symptoms, the liver begins to fail, and a life-saving liver transplant may be required. Liver transplantation can help prolong a patient’s life.  

A Word From Verywell

Like many serious medical conditions, a diagnosis of PBC can be overwhelming. Learn as much as you can about your illness and the treatment options that are available to you so that you can manage symptoms and have the tools you need to maximize your quality of life.

If the disease becomes too much to handle on your own, seek the help of friends, family, or professionals. When fatigue hampers you, you may need an extra hand to complete daily activities, and professional support can help you maintain a productive and positive outlook on life.