Primary Sclerosing Cholangitis

Primary Sclerosing Cholangitis

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Primary Sclerosing Cholangitis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Chronic Obliterative Cholangitis
  • Fibrosing Cholangitis
  • Stenosing Cholangitis

Disorder Subdivisions

  • None

General Discussion

Primary sclerosing cholangitis is a rare progressive disorder characterized by inflammation, thickening, and abnormal formation of fibrous tissue (fibrosis) within the passages that carry bile from the liver (bile ducts). This often results in the obstruction or interruption of bile flow from the liver (cholestasis). Symptoms associated with primary sclerosing cholangitis include fatigue and itching (pruritis), followed by yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). In addition, affected individuals may have dark urine, light-colored stools, abdominal pain, and/or nausea. In some cases, the liver may also become abnormally enlarged (hepatomegaly). According to the medical literature, approximately 50 to 75 percent of individuals with primary sclerosing cholangitis may also have ulcerative colitis. The exact cause of primary sclerosing cholangitis is not known.

Symptoms

Primary sclerosing cholangitis is characterized by episodes of interrupted or obstructed bile flow from the liver (cholestasis), resulting from inflammation, thickening, and/or abnormal formation of fibrous tissue (fibrosis) within the passages that carry bile from the liver (bile ducts).



The most common presentation of symptoms of primary sclerosing cholangitis is fatigue and itching (pruritis), followed by jaundice. When the flow of bile from the liver is blocked, the bile may be absorbed into the bloodstream, resulting in yellowing of the skin, mucous membranes, and whites of the eyes (obstructive jaundice). Additional symptoms associated with primary sclerosing cholangitis include a general feeling of ill health (malaise); abdominal pain, especially the upper right portion of the abdomen; nausea; dark urine; light-colored stools; and/or abnormal enlargement of the liver (hepatomegaly) and/or spleen (splenomegaly).



In some cases, affected individuals may experience episodes of fever, chills, and night sweats resulting from infection of the bile ducts (bacterial cholangitis). In addition, primary sclerosing cholangitis may progress to cause scarring and damage to the liver (cirrhosis) and increased blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension).



As individuals with primary sclerosing cholangitis age, they may eventually develop life-threatening complications such as liver (hepatic) failure. Individuals with primary sclerosing cholangitis are at a greater risk than the general population of developing a form of cancer that affects the bile ducts (cholangiocarcinoma).



In approximately 50 to 70 percent of cases, individuals with primary sclerosing cholangitis may also have ulcerative colitis, an inflammatory bowel disease (IBD) of unknown cause that is characterized by chronic inflammation and ulceration of the lining of the major portion of the large intestine (colon). In addition, primary sclerosing cholangitis may also be associated with Crohn's disease, retroperitoneal fibrosis, Peryronie's disease, and/or several immunodeficiency syndromes. (For more information on these disorders, choose exact disorder name as your search term in the Rare Disease Database.)

Causes

The exact cause of primary sclerosing cholangitis is not known. Several factors have been proposed as possibly being involved with the development of this disorder. These factors include improper copper metabolism, viral infections, genetic and environmental factors, and/or immune system abnormalities.

Affected Populations

Primary sclerosing cholangitis is a rare disorder predominately affecting middle-aged males, although it may affect males of any age.

Standard Therapies

Diagnosis

A diagnosis of primary sclerosing cholangitis is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings, and a variety of specialized tests including cholangiography. A cholangiography is a type of X-ray test that is used to examine the bile ducts.



Treatment

There is no specific treatment for individuals with primary sclerosing cholangitis. Treatment is directed toward the specific symptoms that are apparent in each individual and at slowing the progression of the disorder.



Surgery to remove blockages and enlarge narrowed bile ducts may be of benefit to help prevent liver deterioration. Lost vitamins should be replaced when required to prevent complications related to these deficiencies. Antibiotics may be useful in controlling inflammation or infection. The drug cholestyramine may be effective in controlling itching. Additional treatment is symptomatic and supportive.

Investigational Therapies

Liver transplantation has proven effective in the treatment of individuals with advanced symptoms of primary sclerosing cholangitis (i.e., advanced end-stage liver disease). More research is necessary to determine the long-term safety and effectiveness of liver transplantation as a treatment for severe cases of primary sclerosing cholangitis. In some cases, the disorder has recurred after liver transplantation.



Additional treatments being tested include drainage of blocked bile through tubes inserted in ducts and enlarging abnormally narrowed bile ducts (at least temporarily) by inserting a tiny balloon inside the duct and inflating it (endoscopic balloon dilation). Effectiveness and side effects of these procedures and devices have not been fully documented and more extensive research is being pursued before their therapeutic value for primary sclerosing cholangitis can be evaluated.



The drug ursodiol (ursodeoxycholic acid) has been studied as a treatment for individuals with primary sclerosing cholangitis. In some cases, individuals have demonstrated a temporary improvement in symptoms after the administration of ursodiol. However, the drug did not slow the overall progression of the disorder. More research is necessary to determine the long-term safety and effectiveness of this treatment for primary sclerosing cholangitis.



Drugs that suppress the function of the immune system (immunosuppressive drugs) such as corticosteroids (e.g., methotrexate and cyclosporine) are being studied as potential treatment options for individuals with primary sclerosing cholangitis. More research is necessary to determine the long-term safety and effectiveness of these drugs for primary sclerosing cholangitis.



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Bennett JC, Plum F, eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:812.



Fauci AS, et al., eds. Harrison's Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:1736.



Leevy CM, et al., eds. Diseases of the Liver and Biliary Tract: Standardization of Nomenclature, Diagnostic Criteria and Prognosis. New York, NY: Raven Press; 1994:79-80.



Yamada T, et al., eds. Textbook of Gastroenterology. 2nd ed. Philadelphia, PA: J.B. Lippincott Company; 1995:2231-40.



JOURNAL ARTICLES

Kaya M, et al. Treatment of cholangiocarcinoma complicating primary sclerosing cholangitis: the Mayo Clinic experience. Am J Gastroenterol. 2001;96:1164-69.



Fleming KA, et al. Biliary dysplasia as a marker of cholangiocarcinoma in primary sclerosing cholangitis. J Hepatol. 2001;34:360-65.



Benhamou JP. Primary sclerosing cholangitis. Rev Pract. 2000;50:2146-49.



Prall RT, et al. Current therapies and clinical controversies in the management of primary sclerosing cholangitis. Curr Gastroenterol Rep. 2000;2:99-103.



Stiehl A, et al. Therapy of primary sclerosing cholangits. Schweiz Rundsch Med Prax. 2000;89:975-77.



Gow PJ, et al. Liver transplantation for primary sclerosing cholangitis. Liver. 2000;20:97-103.



Stiehl A, et al. Primary sclerosing cholangitis. Can J Gastroenterol. 2000;14:311-15.



Lee YM, et al. Medical treatment of primary sclerosing cholangitis. J Hepatobiliary Pancreat Surg. 1999;6:361-65.



Harrison PM. Diagnosis of primary sclerosing cholangitis. J Hepatobiliary Pancreat Surg. 1999;6:356-60.



Lindor KD. Ursodiol for primary sclerosing cholangitis. Mayo Primary Sclerosing Cholangitis-Ursodeoxycholic Acid Study Group. N Engl J Med. 1997;336:691-95.



Mitchell SA, et al. Review article: the management of primary sclerosing cholangitis. Aliment Pharmacol Ther. 1997;11:33-43.



Harnois DM, et al. Primary sclerosing cholangitis: evolving concepts in diagnosis and treatment. Dig Dis. 1997;15:23-41.



Kaplan MM. Toward better treatment of primary sclerosing cholangitis. N Engl J Med. 1997;336:719-21.

Resources

American Liver Foundation

39 Broadway, Suite 2700

New York, NY 10006

USA

Fax: (212)483-8179

Tel: (800)465-4837

Email: http://www.liverfoundation.org/contact/

Internet: http://www.liverfoundation.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

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Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Canadian Liver Foundation

3100 Steeles Avenue East Suite 801

Markham Ontario, L3R 8T3

Canada

Tel: 4164913353

Fax: 9057521540

Tel: 8005635483

Email: clf@liver.ca

Internet: http://www.liver.ca



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Autoimmune Information Network, Inc.

PO Box 4121

Brick, NJ 08723

Fax: (732)543-7285

Email: autoimmunehelp@aol.com



PSC Partners Seeking a Cure

5237 South Kenton Way

Englewood, CO 80111

Tel: (303)771-5227

Fax: (303)221-0757

Email: contactus@pscpartners.org

Internet: http://www.pscpartners.org



European Society for Immunodeficiencies

1-3 rue de Chantepoulet

Geneva, CH 1211

Switzerland

Tel: 410229080484

Fax: 41229069140

Email: esid@kenes.com

Internet: http://www.esid.org



For a Complete Report

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