Primary biliary cirrhosis

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**Primary biliary cirrhosis**
*Classification & external resources*
ICD-10	K74.3
ICD-9	571.6
eMedicine	med/223

Primary biliary cirrhosis is an autoimmune disease of the liver marked by the slow progressive destruction of the small bile ducts (bile canaliculi) within the liver. When these ducts are damaged bile builds up in the liver (cholestasis) and over time damages the tissue. This can lead to scarring, fibrosis, cirrhosis, and ultimately liver failure. It was previously thought to be a rare disease, but more recent studies have shown that it may effect up to 1 in 3-4,000 people; the sex ratio is 10 to 1, women to men.

1 Signs and symptoms
2 Diagnosis
3 Etiology
4 Therapy
5 References
- 5.1 Medical
- 5.2 General
6 See also
7 External links

[edit] Signs and symptoms

The following signs may be present in PBC:

fatigue
pruritus (itchy skin)
jaundice (yellowing of the eyes and skin), due to increased bilirubin in the blood.
xanthelasmata (focal collections of cholesterol in the skin, especially around the eyes)
Complications of cirrhosis and portal hypertension:
- fluid retention in the abdomen (ascites)
- esophageal varices
- hepatic encephalopathy, up to coma, in extreme cases.
Association with an extrahepatic autoimmune disorder such as Rheumatoid Arthritis or Sjögren syndrome (up to 80% incidence).

[edit] Diagnosis

To diagnose PBC, distinctions should be established from other conditions with similar symptoms, such as autoimmune hepatitis or primary sclerosing cholangitis (PSC).

Diagnostic blood tests include:

deranged liver function tests (high alkaline phosphatase, elevated AST, ALT)
presence of certain antibodies: antimitochondrial antibody, antinuclear antibody (the M2-IgG antimitochondrial antibody is the most specific test)

Abdominal ultrasound or a CT scan is usually performed to rule out blockage to the bile ducts. Previously most suspected sufferers underwent a liver biopsy, and - if uncertainty remained - endoscopic retrograde cholangiopancreatography (ERCP, an endoscopic investigation of the bile duct). Now most patients are diagnosed without invasive investigation since the combination of anti-mitochondrial antibodies (see below) and typical (cholestatic) liver function tests are considered diagnostic. However, a liver biopsy is necessary to determine the stage of disease.

[edit] Etiology

The cause of the disease is unknown at this time, but research indicates that there is an immunological basis for the disease, making it an autoimmune disorder. Most of the patients (>90%) seem to have auto-mitochondrial antibodies (AMAs) against pyruvate dehydrogenase complex (PDC-E2), an enzyme complex that is found in the mitochondria. In addition, a more specific test to confirm this disease from a bone disorder such as Paget's (disease of bone) which also has increases in Alkaline phosphatase is the Gamma-glutamyl trans peptidase test (GGTP). An increase in GGTP could indicate presence of Primary Biliary Cirrhosis.

[edit] Therapy

There is no known cure, but medication may slow the progression so that a normal lifespan and quality of life may be attainable for many patients. However, specific treatment for fatigue, which may be invalidating in some patients, is unavailable. Ursodeoxycholic acid (Ursodiol) is the most frequently used treatment. This helps reduce the cholestasis and improves blood test results (liver function tests). It has a minimal efect of symptoms and whether it improves prognosis is controversial. To relieve itching caused by bile acids in circulation, which would normally be removed by the liver, cholestyramine (a bile acid sequestrant) may be prescribed to absorb bile acids in the gut and be eliminated, rather than re-enter the blood stream. As in all liver diseases, alcoholic beverages are contraindicated. In advanced cases, a liver transplant, if successful, results in a favourable prognosis.

[edit] References

[edit] Medical

Mendelian Inheritance in Man (OMIM) 109720
M. Eric Gershwin, John M. Vierling, Michael P. Manns, eds. Liver Immunology. Philadelphia, Pa.: Hanley and Belfus, 2003. ISBN 1-56053-499-0. (State of the art; technical.)
Marshall M. Kaplan, and M. Eric Gershwin, "Primary Biliary Cirrhosis", New Engl. J. of Medicine, 353:1261-1273 September 22, 2005 Number 12 . Review article
Carlo Selmi, Ross L. Coppel, and M. Eric Gershwin, "Primary Biliary Cirrhosis", in Noel R. Rose, Ian R. Mackey, eds, The Autoimmune Diseases, 4th edition, Academic Press, 2006

[edit] General

Sanjiv Chopra. The Liver Book: A Comprehensive Guide to Diagnosis, Treatment, and Recovery, Atria, 2002, ISBN 0-7434-0585-4
Melissa Palmer. Dr. Melissa Palmer's Guide to Hepatitis and Liver Disease: What You Need to Know, Avery Publishing Group; Revised edition May 24, 2004, ISBN 1-58333-188-3. her webpage.
Howard J. Worman. The Liver Disorders Sourcebook, McGraw-Hill, 1999, ISBN 0-7373-0090-6.