Primary biliary cholangitis (formerly known as primary biliary cirrhosis), or PBC, often isn’t diagnosed until the later stages of the disease. Many people don’t experience any PBC symptoms until their disease has progressed. Early symptoms like pruritus (itchy skin) and fatigue may also be caused by other diseases. Your doctor may have a difficult time making a diagnosis with early PBC.

If you start noticing any symptoms of PBC, it’s important to make an appointment with your doctor. They’ll use your medical and family history, blood and imaging tests, physical exam results, and a liver biopsy to make a final diagnosis. Your doctor will also rule out other similar liver diseases, including primary sclerosing cholangitis and autoimmune hepatitis.

PBC is a progressive inflammatory liver disease that damages your liver’s bile ducts. Receiving an accurate diagnosis is key to starting the right treatment and delaying disease progression. Although there isn’t a cure for PBC, it can be managed with medications and surgery.

Physical Exam and Medical History

When taking your medical history, your doctor will ask about certain causes and risk factors of PBC, including:

• Your personal history of autoimmune diseases, such as Sjögren’s disease or autoimmune thyroid disease
• Your family history of PBC or other liver diseases (especially in parents and siblings)
• Your personal history of infections, like urinary tract infections
• Your exposure to toxic chemicals and other environmental factors associated with PBC
• Your smoking status

Symptoms and Signs of PBC Seen During a Physical Exam

Your doctor will also ask if you’re currently experiencing any symptoms. The most common early symptoms of PBC are itchy skin and fatigue. You should also let your doctor know if you’re experiencing any pain or discomfort in the upper right part of your abdomen (where your liver is) or if you have a dry mouth or dry eyes. Your doctor will also look at your skin and eyes for any yellowing, a sign of jaundice seen with liver damage.

As PBC progresses, your doctor will look for other complications of PBC. For example, scar tissue buildup in your liver from PBC can lead to high blood pressure in your liver’s veins, known as portal hypertension. During your physical exam, your doctor will look for symptoms of portal hypertension, including:

• An enlarged spleen and liver, which can be felt underneath your skin
• Bleeding or bruising more easily than normal
• Swelling in your abdomen caused by ascites (fluid buildup)
• Edema (swelling in your legs, ankles, and feet)

Your liver makes bile, which is an essential fluid that helps with digestion. In PBC, bile can’t flow through your damaged bile ducts (known as cholestasis). This causes bile to build up in your liver, preventing it from reaching your stomach and intestines. Without enough bile, your body can’t break down and absorb fats from food. You may also develop vitamin deficiencies in fat-soluble vitamins, including vitamins A, D, E, and K.

As a result, your doctor may also find the following during your physical exam:

• Fatty deposits just underneath your skin
• Osteoporosis (bone thinning) from a lack of vitamin D
• Diarrhea or fat in your stool
• Weight loss

Blood Tests for PBC

Blood tests look for various proteins involved in PBC. They’re also used to check your liver function and cholesterol levels to rule out other conditions. Your doctor may refer to these blood tests as “PBC labs,” which are essential for diagnosing and monitoring the disease.

Liver Function Tests

Blood tests are used to measure elevated liver enzymes, a sign of liver damage from PBC. High levels of the liver enzyme alkaline phosphatase (ALP) can point to a PBC diagnosis. This is because damaged bile ducts release ALP into your bloodstream. Normal ALP levels range from 44 international units to 147 international units per liter of blood. PBC is diagnosed when ALP levels are at least 1.5 times higher than the normal range over 24 weeks.

Many organs in your body make ALP. For example, high ALP levels can also be a sign of other liver or bone diseases. Additional tests may be needed to confirm whether you have PBC.

An ALP test is usually part of a comprehensive metabolic panel (CMP), or many liver tests to check how well your liver is functioning. Other substances measured in a CMP include:

• Electrolytes like calcium, potassium, and sodium
• Bilirubin, a yellow substance found in bile from breaking down red blood cells
• Albumin, a protein made by your liver cells

Over time, other liver enzyme levels may change. If your bilirubin levels increase and your albumin levels decrease, it may be a sign that your PBC is progressing.

Antimitochondrial Antibody Test

PBC is considered an autoimmune disease — meaning your immune system attacks your body’s healthy tissues. In PBC, your immune system makes specialized proteins known as autoantibodies that flag your liver’s bile ducts for destruction.

Another type of blood test for PBC looks for antimitochondrial antibodies (AMA). According to the National Institute of Diabetes and Digestive and Kidney Diseases, around 95 percent of people with PBC have AMA.

A positive AMA test result is an important part of a PBC diagnosis. If you have high ALP levels but a negative AMA test result, you will need a liver biopsy. This is because high ALP levels are associated with many liver diseases, and your doctor will need to rule them out.

Cholesterol Levels

According to the Mayo Clinic, more than 50 percent of people with PBC have extremely high fat (lipid) levels in their blood. A lipid panel measures your cholesterol and triglyceride levels. PBC may be associated with high levels of high-density lipoprotein (HDL) — also known as “good cholesterol.”

Imaging Tests for PBC

Imaging tests are important for ruling out other diseases that cause symptoms similar to PBC, such as gallstones, hepatocellular carcinoma (liver cancer), or strictures (narrowing in the bile ducts). These tests also let your doctor know how far your PBC has progressed.

An abdominal ultrasound uses sound waves that bounce off your liver to create images. If your blood tests show you have PBC, an abdominal ultrasound is usually the first imaging test used. If your doctor needs more detailed images, they may order magnetic resonance imaging (MRI) scans.

One type of MRI scan — known as magnetic resonance cholangiopancreatography (MRCP) — looks at the liver, bile ducts, gallbladder, and pancreas. People with PBC typically have a normal MRCP scan result. An abnormal scan result may point to other conditions like primary sclerosing cholangitis or gallstones.

Liver Biopsy

If your blood test results can’t confirm a PBC diagnosis, your doctor may perform a liver biopsy. This test uses a long, thin needle that’s inserted into your liver to take a small piece of tissue. Your doctor will send the tissue sample to a lab, where it’s examined under a microscope.

A pathologist will look at the sample to rule out other liver diseases and confirm that you have PBC. They’ll also look at how much fibrosis or cirrhosis (scarring) is in the liver tissue. This will tell your doctor how far your PBC has progressed. Too much cirrhosis may be a sign of liver failure.

What Are the Diagnostic Criteria for Primary Biliary Cholangitis?

Doctors use a combination of test results to confirm primary biliary cholangitis. Typically, a diagnosis is made when at least two of the following are present: persistently high alkaline phosphatase (ALP) levels, a positive antimitochondrial antibody (AMA) test, or liver biopsy findings consistent with PBC. This approach helps ensure the diagnosis is accurate, even if some test results are inconclusive or symptoms are unclear.

After Receiving a PBC Diagnosis

Once you receive a PBC diagnosis, you’ll then start a treatment plan to slow the progression of the disease and prevent more liver damage. In severe cases of PBC leading to liver failure, a liver transplant may be necessary.

Reaching a diagnosis of PBC can be complex because the condition doesn’t always come with clear symptoms. Nevertheless, a comprehensive evaluation involving your medical history and a range of tests is crucial to pinpoint the condition. Detecting higher alkaline phosphatase levels in blood tests, even when there aren’t any noticeable symptoms, is a common clue.

If you suspect you might have PBC, talk to your healthcare provider. Early diagnosis and appropriate action are vital for effectively managing the condition.

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Have you or a loved one been diagnosed with primary biliary cholangitis? Did it take a long time to receive the diagnosis? Share your experience in the comments below, or start a conversation by posting on your Activities page.