Primary Biliary Cirrhosis

Diagnosis

Most often PBC is diagnosed after an abnormality appears in a routine blood test or health evaluation. People with PBC may have high cholesterol because cholesterol is normally excreted in the bile. PBC most often affects the middle-aged; women are 10 times more likely than men to have the disease.

The most common symptoms of PBC are fatigue, itching over the entire body — or dry eyes and mouth. As the disease progresses, symptoms can include:

• Jaundice
• Fever
• Gastrointestinal bleeding
• Hyperpigmentation, blotchy, slightly tanned appearance
• Abdominal pain
• Swollen abdomen or feet
• Vomiting blood
• Cholesterol deposits — waxy bumps that most often appear on the eye's upper or lower lid
• Diarrhea (due to the body's inability to absorb fat) or black or very dark stools

Mayo specialists use blood tests to diagnose this disease and liver biopsies to stage the disease if necessary:

Blood tests: Alkaline phosphatase (an enzyme produced in the bile ducts) may be elevated, indicating that the bile ducts may be obstructed. Antimitochondrial antibody (AMA) is present in almost all people who have PBC. Since 5 to 10 percent of PBC patients do not have detectable AMA in their blood, patients with a negative result may still need a liver biopsy to rule out PBC.

Liver biopsies: A liver biopsy (tissue sample) may be performed to help determine the severity and extent of the disease or for patient participation in a research study. This can be done on an outpatient basis. A small piece of tissue is taken from the liver using a needle. An ultrasound or CT scan is used to guide the placement of the needle and local anesthetic is used at the site of the needle insertion. A pathologist looks for change or damage in the liver tissue.

Stages of PBC

Stage 1 — Fibrosis or scar tissue limited to a few spots called portal areas, little areas of "plumbing" or ductwork in the liver tissue.
Stage 2 — Fibrosis beginning to appear outside the portal areas. These strands of fibrosis are not yet connected to each other.
Stage 3 — Areas of fibrosis connecting to each other.
Stage 4 — Widespread, honeycomblike scarring known as cirrhosis.