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Tests and diagnosis
By Mayo Clinic staffMany people with primary biliary cirrhosis have no symptoms of the disease when they're initially diagnosed. Instead, doctors often become aware of a problem during routine blood tests or an evaluation for another condition.
If your doctor suspects primary biliary cirrhosis, several tests can help make the diagnosis, including:
- Liver function tests. These blood tests check the levels of enzymes that may indicate liver disease in general and bile duct injury in particular. Certain liver enzymes are elevated in most people with primary biliary cirrhosis, especially alkaline phosphatase, which is produced in the bile ducts.
- Ultrasound imaging. This noninvasive test uses high-frequency sound waves to create precise images of structures within the body, including the bile ducts. It's sometimes used to rule out other causes of bile flow blockage, such as gallstones or tumors.
- Anti-mitochondrial antibodies (AMAs). Found in every cell, mitochondria are the prime energy producers of your body. Antibodies are proteins in your blood that help destroy bacteria and other harmful pathogens. Most people with primary biliary cirrhosis have anti-mitochondrial antibodies — antibodies that target enzymes in the mitochondria. These antibodies almost never occur in people who don't have primary biliary cirrhosis, even if they have other liver disorders. For that reason, a positive AMA test is considered a very reliable indicator of the disease. At the same time, a small percentage of people with primary biliary cirrhosis don't have AMAs. False-positive tests, which indicate a problem where none exists, also can occur. Because an AMA test isn't entirely foolproof, doctors usually perform a liver biopsy, which can definitively confirm the presence or absence of the disease.
- Liver biopsy. In this test, a small sample of liver tissue (biopsy) is removed and examined in a laboratory, either to confirm the diagnosis or to determine the extent (stage) of the disease. Doctors withdraw the tissue through a small incision using a thin needle. Doctors may take more liver biopsies as time goes on to check the progression of the disease.
- Magnetic resonance imaging (MRI) and magnetic resonance elastography (MRE). MRI is a frequently used imaging test that uses a powerful magnetic field and radio waves to produce detailed images inside your body. When diagnosing primary biliary cirrhosis, MRI can be used to detect abnormalities of your liver. MRE is a relatively new test that may help your doctor diagnose primary biliary cirrhosis and may help avoid the need for a liver biopsy, which is more invasive. MRE technology works by combining traditional magnetic resonance imaging with low-frequency sounds waves. The MRI component shows the size and structure of your tissues and organs. The low-frequency sound waves then help reveal physical properties of those tissues and organs — such as tissue stiffness. Stiffness of your liver may indicate cirrhosis.
Early screening
In some cases, doctors may be able to discover if a person is at risk of primary biliary cirrhosis early. Some research has shown that first-degree relatives of people with primary biliary cirrhosis are more likely to have antibodies in their blood that increase their risk of the disease. If you have a first-degree relative — a parent, sibling or child — who has primary biliary cirrhosis, your doctor can screen your blood for these antibodies. By knowing whether you have them, your doctor can more closely monitor you and may be able to provide treatment earlier, should you develop the disease. Early treatment is important and can help slow the progression of the disease.
- Primary biliary cirrhosis. National Institute of Diabetes and Digestive and Kidney Diseases. http://digestive.niddk.nih.gov/ddiseases/pubs/primarybiliarycirrhosis/index.htm. Accessed Aug. 14, 2009.
- Primary biliary cirrhosis. American Liver Foundation. http://www.liverfoundation.org/education/info/pbc/. Accessed Aug. 14, 2009.
- Cirrhosis. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec03/ch026/ch026c.html. Accessed Aug. 14, 2009.
- Friedman LS. Liver, biliary tract and pancreas disorders. In: McPhee SJ, et al. Current Medical Diagnosis & Treatment. 48th ed. Los Altos, Calif.: Lange Medical Publications; 2009. http://www.accessmedicine.com/content.aspx?aID=7993. Accessed Aug. 14, 2009.
- Kaplan M, et al. Primary biliary cirrhosis. New England Journal of Medicine. 2005;353:1261.
- Kaplan MM. Clinical manifestations, diagnosis, and natural history of primary biliary cirrhosis. http://www.uptodate.com/home/index.html. Accessed July 30, 2009.
- Kaplan MM. Overview of the treatment of primary biliary cirrhosis. http://www.uptodate.com/home/index.html. Accessed July 30, 2009.
- Hirschfeld GM, et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. New England Journal of Medicine. 2009;360:2544.
- Taouli B, et al. Advanced MRI methods for assessment of chronic liver disease. American Journal of Roentgenology. 2009;193:14.
- Lazaridis K, et al. Increased prevalence of antimitochondrial antibodies in first-degree relatives of patients with primary biliary cirrhosis. Hepatology. 2007;46:785.
- Lindor K. Ursodeoxycholic acid for the treatment of primary biliary cirrhosis. New England Journal of Medicine. 2007;357:1254.
- Picco MF (expert opinion). Mayo Clinic, Jacksonville, Fla. Aug. 31, 2009.
- Hay JE. Bone disease in cholestatic liver disease. Gastroenterology. 1995;108:278.
