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Ulcerative colitis is an inflammatory bowel disease (IBD) of unknown cause. It is characterized by chronic inflammation and ulceration of the lining of the major portion of the large intestine (colon). In most affected individuals, the lowest region of the large intestine, known as the rectum, is initially affected. As the disease progresses, some or all, of the colon may become involved. Although associated symptoms and findings usually become apparent during adolescence or young adulthood, some individuals may experience an initial episode between ages 50 to 70. In other cases, symptom onset may occur as early as the first year of life.
Ulcerative colitis is usually a chronic disease with repeated episodes of symptoms and remission (relapsing-remitting). However, some affected individuals may have few episodes, whereas others may have severe, continuous symptoms. During an episode, affected individuals may experience attacks of watery diarrhea that may contain pus, blood, and/or mucus; abdominal pain; fever and chills; weight loss; and/or other symptoms and findings. In severe cases, individuals may be at risk for certain serious complications.
For example, severe inflammation and ulceration may result in thinning of the wall of the colon, causing tearing (perforation) of the colon and potentially life-threatening complications. In addition, in some cases, individuals with the disorder may eventually develop more generalized (systemic) symptoms, such as certain inflammatory skin or eye conditions; inflammation, pain, and swelling of certain joints (arthritis); chronic inflammation of the liver (chronic active hepatitis); and/or other findings.
The specific underlying cause of ulcerative colitis is unknown. However, genetic, immunologic, infectious, and/or psychologic factors are thought to play some causative role.
In most cases, the symptoms associated with ulcerative colitis develop gradually; however, in some individuals, symptom onset may be rapid and severe (fulminant). Although the disorder is usually characterized by repeated recurrences and periods of remission, some affected individuals may have infrequent episodes and others may have severe symptoms that are ongoing.
The range and severity of associated symptoms and findings may be variable from case to case, depending upon the amount of the colon affected, the degree of inflammation, and/or other factors. Those in whom the disease is limited to the lowest region of the large intestine (rectum) or the rectum and the lowest portion of the colon (sigmoid) tend to have mild disease with few generalized (systemic) symptoms. Other individuals with the disease may have involvement of varying lengths of the colon. Most may have mild to moderate symptoms; however, in some cases, the entire colon may become affected, causing severe symptoms, including systemic inflammatory conditions.
The primary symptoms and findings associated with ulcerative colitis typically include a change in stool frequency; watery diarrhea that may contain blood, mucus, and/or pus; and abdominal bloating (distension), discomfort, cramping, and/or pain. Those with primary involvement of the rectum are often affected by rectal bleeding and ineffectual, persistent spasms of the rectum (tenesmus). In individuals with severe ulcerative colitis, episodes may be characterized by bloody, violent diarrhea; high fever and chills; abnormally high levels of certain circulating white blood cells (leukocytosis); excessive loss of fluid from bodily tissues (dehydration); lack of appetite (anorexia); and/or weight loss. Children with the disorder may also be affected by growth retardation.
Individuals with severe ulcerative colitis may be at risk for certain complications. Due to chronic blood loss, there may be inadequate levels of iron and reduced levels of the oxygen-carrying component (hemoglobin) of red blood cells (iron-deficiency anemia). Severe inflammation and extensive ulceration may lead to thinning and subsequent perforation of the wall of the colon. In addition, severe inflammation and damage of the intestinal wall may inhibit the wavelike contractions that propel food through the intestines (peristalsis), leading to obstruction (ileus) and potentially massive enlargement of the colon (toxic megacolon).
Associated symptoms and findings may include abdominal tenderness or pain, high fever, a high white blood cell count, and/or other abnormalities. Toxic megacolon may lead to perforation of the wall of the colon, allowing leakage of digestive juices and bacteria into the abdominal cavity, which may cause generalized inflammation of the abdominal lining (peritonitis), blood poisoning (septicemia), and potentially life-threatening complications.
Some individuals with ulcerative colitis may also have a higher frequency of colon cancer than individuals in the general population. The risk for the development of colon cancer is highest in those with involvement of the entire colon (pancolitis) and who have disease of long duration. Evidence suggests that those with disease involvement limited to the rectum (ulcerative proctitis) do not appear to have an increased risk of colon cancer compared to the general population.
Some affected individuals, particularly those with severe ulcerative colitis, may also develop more generalized (systemic) symptoms. Such symptoms and findings may include inflammation (arthritis), pain, and swelling of certain joints of the limbs (peripheral arthritis); inflammation of joints of the spine (ankylosing spondylitis); and/or inflammation of the pelvic joints (sacroiliitis). Some individuals may also develop certain inflammatory skin conditions including the formation of irregular, reddish-blue, pus-containing skin sores and/or multiple, inflammatory, potentially tender skin nodules (pyoderma gangrenosum and/or erythema nodosum).
Inflammatory eye conditions may also develop in some cases, such as inflammation of the outermost layers (episcleritis) or the middle layers of the eye (uveitis). Certain of these inflammatory conditions may tend to flare up in association with intestinal symptoms (e.g., peripheral arthritis, episcleritis, skin conditions), while others may occur independently of colitis (e.g., ankylosing spondylitis, sacroiliitis, uveitis). Reports suggest that the latter conditions may develop years before symptoms of colitis.
Many individuals with severe ulcerative colitis may also have minor changes in liver function. More rarely, affected individuals may have mild to severe liver disease, such as fatty liver; inflammation and narrowing of the bile ducts (primary sclerosing cholangitis); and/or chronic liver inflammation (chronic active hepatitis), potentially leading to internal scarring and impaired functioning of the liver (cirrhosis).
The exact cause of ulcerative colitis is not known. However, researchers indicate that genetic, immunologic, infectious, and/or other factors may play some contributing role. Because the disorder more commonly occurs in particular populations, such as in people of Jewish descent, and within certain families (kindreds), researchers suggest that genetic predisposition may be a factor in development of the disease. Some indicate that a genetic predisposition may lead to an abnormal intestinal immune response to particular infectious or other environmental agents. However, despite much research in this area, a specific bacterial, viral, fungal, or other infectious cause has not been identified. In addition, no causative immunologic abnormalities specific to ulcerative colitis have been determined.
Because the disorder may initially occur or flare up in association with stressful life events, some suspect that emotional factors may play some role. Currently, there is no direct evidence relating the disorder's cause to psychological factors. However, because emotional distress, anxiety, and depression may occur as a reaction to symptoms, many researchers suggest that such factors may affect the course of the disease as well as an affected individual's specific response to treatment.
Ulcerative colitis affects males and females in equal numbers. In the United States and Western Europe, the frequency (i.e., prevalence) of the disease is approximately 70 to 150 cases per 100,000 in the general population. Although symptoms associated with the disorder typically begin between the ages of approximately 15 to 35 years, some people may experience an initial episode between ages 50 to 70. In other cases, symptom onset may occur as early as the first year of life.
Ulcerative colitis is more frequent among Caucasians than individuals of Asian or African descent. In addition, the disorder is approximately three to six times more prevalent in individuals of Jewish descent than those of non-Jewish ancestry. According to reports in the medical literature, the prevalence of the disease among closely related (first-degree) relatives appears to be between four to 16 percent.
Symptoms of the following disorders may be similar to those of ulcerative colitis. Comparisons may be useful for a differential diagnosis:
Crohn's disease is an inflammatory bowel disease (IBD) characterized by chronic inflammation that typically affects the entire thickness of the intestinal wall. (As mentioned above, ulcerative colitis is usually limited to the lining of the colon [except in cases of toxic megacolon and perforation].) Diseased regions may be separated by apparently normal areas ("skip lesions"). Although Crohn's cisease most commonly affects the lowest region of the small intestine (ileum) or the colon, it may involve any region of the gastrointestinal tract. In those with the disorder, chronic inflammation typically leads to thickening, scarring, and ulceration of the intestinal wall.
The range and severity of symptoms may vary, depending upon the location of disease involvement, degree of inflammation, and other factors. However, symptoms may commonly include abdominal cramping and/or pain; diarrhea that often does not contain blood; fever; loss of appetite; nausea; weight loss; a general feeling of weakness and fatigue; and/or other features. Rectal bleeding is significantly less common than seen in ulcerative colitis. Chronic inflammation and associated changes may lead to certain complications, such as intestinal obstruction; the development of pockets of infection (abscesses); and/or abnormal channels (fistulas), such as between the intestine and the skin surface or joining different segments of the intestine.
Many develop problems around the anal area, including abscesses, fistulas, and deep grooves or cracks (fissures) in the lining of the mucous membrane. Some individuals may also develop more systemic symptoms, such as inflammation (arthritis) of certain joints of the limbs, the spine (ankylosing spondylitis), and/or the pelvis (sacroiliitis); inflammation of the whites of the eyes; inflammatory skin conditions; and/or other abnormalities. The cause of Crohn's disease is unknown. However, it is thought to result from a genetic predisposition that may lead to an abnormal intestinal immune response to an infectious or other environmental agent. (For more information on this disorder, choose "Crohn" as your search term in the Rare Disease Database.)
Inflammation of the colon (colitis) due to various other causes may also result in certain symptoms similar to those associated with ulcerative colitis. For example, sudden (acute) colitis may be caused by infection with various microorganisms (infectious colitis), including Salmonella, Shigella, and Entamoeba histolytica. (Intestinal infection with the latter is known as Amebiasis.) Infectious colitis may be characterized by bloody diarrhea, abdominal pain, fever, and, in severe cases, complications similar to those potentially associated with ulcerative colitis. Such features may also be associated with colitis resulting from the use of various antibiotics (antibiotic-associated colitis). Such antibiotics may alter the balance of certain bacteria in the intestine, permitting them to multiply. In most cases, antibiotic-associated colitis is due to the bacterium Clostridium difficile, which produces toxins that may damage the intestinal lining. Colitis may also be caused by radiation therapy to the pelvic or abdominal region (radiation colitis); poor blood supply to the colon (ischemic colitis), particularly in elderly individuals with narrowing of the arteries due to plaque formation (atherosclerosis); and other underlying conditions or disorders. In addition, certain acute, sexually transmitted infections of the rectum (e.g., herpesvirus, gonorrhea) may cause symptoms similar to those associated with ulcerative proctitis.
Irritable bowel syndrome is a digestive disorder characterized by an abnormal increase in the motility of the intestines. Symptoms may include varying degrees of crampy abdominal pain or discomfort, constipation and/or diarrhea, and abdominal bloating. Affected individuals may also experience flatulence, nausea, headache, fatigue, anxiety, and/or depression. The cause of the disorder is unknown. However, in some cases, various factors, including emotional stress, certain foods, or medications, may appear to trigger or worsen heightened motility of the gastrointestinal tract. (For more information on this disorder, choose "Irritable Bowel" as your search term in the Rare Disease Database.)
Diverticulitis is a digestive disorder characterized by inflammation of one or more of the sacs (diverticula) that can form due to protrusions of the inner lining of the colon. Diverticula most commonly appear within the lowest region of the colon. (Their presence within the colon is referred to as diverticulosis.) Inflammation of diverticula (i.e., diverticulitis) may lead to crampy pain in the lower abdomen; tenderness and rigidity of the abdomen; fever; rectal bleeding; and certain complications, including intestinal obstruction. (For more information on this disorder, choose "Diverticulitis" as your search term in the Rare Disease Database.)
Other conditions or disorders may be characterized by diarrhea, rectal bleeding, abdominal pain, weight loss, fever, and/or other symptoms potentially associated with ulcerative colitis. (For further information on these disorders, choose the specific disease name in question as your search term in the Rare Disease Database.)
The treatment of individuals with ulcerative colitis is directed at controlling inflammation; managing specific symptoms (e.g., diarrhea, rectal bleeding, abdominal pain, etc.); replacing any lost fluids or nutrients; and preventing recurrent episodes.
In some cases, physicians may recommend that patients avoid raw vegetables and fruits, eliminate dairy products, and/or make other dietary changes to help alleviate symptoms. In addition, iron supplementation may be advised for individuals with anemia.
The medications used to treat individuals with ulcerative colitis may vary, depending upon the extent and severity of the disease and associated symptoms. Certain medications may initially be recommended to help control diarrhea. However, such agents must be used with extreme caution, since they may precipitate enlargement of the colon (colonic dilation) and toxic megacolon in severe cases.
In 2005, the FDA approved the biologic Remicade (also known as infliximab) as a treatment for patients with moderate to severe ulcerative colitis that have not completely responded to other treatments. (This drug has been used for several years as a treatment for Crohn's disease.) Remicade targets the immune system and blocks inflammation. It focuses on a protein called tumor necrosis factor (TNF), which is believed to cause inflammation. For information, contact the manufacturer:
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Remicade was approved by the FDA in 2011 to treat moderately to severely active ulcerative colitis in children 6 years and older who have had inadequate response to conventional therapy.
About half of the people with ulcerative colitis respond to treatment with anti-inflammatory drugs, including a group known as aminosalicylates. For patients who don't respond to those drugs, corticosteroids may be prescribed, but these can cause side effects, including weight gain and acne.
The anti-inflammatory agent known as balsalazide (COLAZAL) has been shown effective in alleviating symptoms and inducing remission. It has been approved by the FDA for the treatment of patients with mild to moderately active ulcerative colitis.
The drug mesalamine (Asacol) has been approved as a treatment for mild to moderate flare-ups of ulcerative colitis and to maintain remission of ulcerative colitis. For information on this drug, contact the manufacturer, P&G Pharmaceuticals, or visit www.asacol.com.
Some affected individuals, such as patients with moderately severe disease, may be prescribed oral corticosteroid therapy, such as prednisone. High-dose therapy with the anti-inflammatory prednisone frequently induces a remission. Once prednisone therapy alleviates inflammation, other medications may also be provided in some cases. The goal is to gradually reduce the dosage of prednisone and eventually withdraw such therapy if possible, since prolonged corticosteroid therapy typically causes certain side effects.
Individuals with severe disease may require hospitalization and intravenous administration of corticosteroids and fluids. In addition, those with severe bleeding may also require blood transfusions.
Humira (adalimumab) by Abbott Laboratories was approved by the FDA in 2012 as a treatment for moderate-to-severe ulcerative colitis in adults when immunosuppressant medicines like corticosteroids, azathioprine, and 6-mercaptopurine have not worked. Humira is an anti-tumor necrosis factor (TNF) that blocks proteins that play an important role in abnormal inflammatory and immune responses. For more information, please go to http://www.humira.com.
Under certain circumstances, surgery may be recommended or required for individuals with ulcerative colitis. Such factors may include an insufficient response to drug therapies; the risk or development of unwanted side effects from medications; the occurrence of certain complications (e.g., perforation, toxic megacolon); or a risk for cancer as seen upon biopsies (see below). Surgery may involve removal of the colon (colectomy) and the rectum with ileostomy. Ileostomy refers to a surgically created connection between the lowest region of the small intestine (ileum) and an opening in the abdominal wall, enabling the discharge of fecal matter. In some cases, there may be alternative surgical procedures available that may maintain continence and avoid ileostomy.
Toxic megacolon is a medical emergency that requires immediate, aggressive treatment. Therapy may include discontinuing any antidiarrheal drugs; providing no food by mouth; and administering intravenous fluids, electrolyte replacement, and blood transfusions as required. In addition, treatment is typically provided with intravenous corticosteroid therapy as well as antibiotics due to the possibility of perforation and the associated presence of bacteria in the blood (bacteremia). If perforation appears likely and there is not appropriate improvement, therapy typically includes emergency colectomy.
Some individuals with ulcerative colitis may have an increased risk of colon cancer. Therefore, it is recommended that patients receive regular colonoscopies with multiple biopsies, preferably during symptom-free periods, beginning after about eight to 10 years of disease. The advised frequency for such examinations may vary, such as from every six months to two years. If cancer is diagnosed, recommended treatment typically includes colectomy. In addition, if abnormal cellular (dysplastic) changes are found (which may be precancerous), some physicians may suggest colectomy, while others may suggest continued surveillance with repeated colonoscopies. However, because evidence indicates that cancer can be found in association with dysplasia of any grade, definite, confirmed dysplasia is considered a strong indication for colectomy. Therefore, it is important for affected individuals to share any questions and concerns with their doctors regarding potential risks and benefits and the most appropriate options in their particular case.
Additional treatment for this disorder is symptomatic and supportive.
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 website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Behrman RE, et al., eds. Nelson Textbook of Pediatrics. 16th ed. Philadelphia, Pa: W.B. Saunders Company; 2000:1150-54.
Beers MH, et al., eds. The Merck Manual. 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:302-15.
Fauci AS, et al., eds. Harrison's Principles of Internal Medicine. 14th ed. New York, NY: McGraw-Hill Companies, Inc.; 1998:1633-45.
Buyse ML. Birth Defects Encyclopedia. Dover, Mass: Blackwell Scientific Publications, Inc; 1990:970-72.
Wyngaarden JB, et al., eds. Cecil Textbook of Medicine. 19th ed. Philadelphia, Pa; W.B. Saunders Company; 1990;701-08.
Sleisenger MH, et al. Gastrointestinal Disease. 4th ed. Philadelphia, Pa; W.B. Saunders Company, 1989;1435-77.
Ragunath K, et al. Balsalazide therapy in ulcerative colitis. Aliment Pharmacol Ther. 2001;15:1549-54.
Nos P, et al. Budesonide in inflammatory bowel disease: a meta-analysis. Med Clin (Barc). 2001;116:47-53.
Michell NP, et al. Heparin therapy for ulcerative colitis? Effects and mechanisms. Eur J Gastroenterol Hepatol. 2001;13:449-56.
Dotan I, et al. Low-Dose low-molecular weight heparin (enoxaparin) is effective as adjuvant treatment in active ulcerative colitis: an open trial. Dig Dis Sci. 2001;46:2239-44.
Gorfine SR, et al. Dysplasia complicating chronic ulcerative colitis: is immediate colectomy warranted? Dis Colon Rectum. 2000;43:1575-81.
Matri S, et al. Tobacco and inflammatory bowel disease. Tunis Med. 2000;78:693-98.
Thomas GA, et al. Role of smoking in inflammatory bowel disease: implications for therapy. Postgrad Med J. 2000;76:273-79.
Folwaczny C, et al. Unfractioned heparin in the therapy of patients with highly active inflammatory bowel disease. Am J Gastroenterol. 1999;94:1551-55.
Tyrrell DJ, et al. Heparin in inflammation: potential therapeutic applications beyond anticoagulation. Adv Pharmacol. 1999;46:151-208.
Hanauer SB, et al. Budesonide enema for the treatment of active, distal ulcerative colitis and proctitis: a dose-ranging study. U.S. Budesonide enema study group. Gastroenterology. 1998;115:525-32.
D'Albasio G, et al. Combined therapy with 5-aminosalicylic acid tablets and enemas for maintaining remission in ulcerative colitis: a randomized double-blind study. New Eng J Med. 1997;92:1143-47.
Evans RC, et al. Treatment of corticosteroid-resistant ulcerative colitis with heparin--a report of 16 cases. Aliment Pharmacol Ther. 1997;11:1037-40.
Beeken W, et al. Controlled trial of 4-ASA in ulcerative colitis. Dig Dis Sci. 1997;42:354-58.
Pullan RD, et al. Transdermal nicotine for active ulcerative colitis. New Eng J Med. 1994;330:811-15.
Lichtiger S, et al. Cyclosporine in severe ulcerative colitis refractory to steroid therapy. New Eng J Med. 1994;330:1841-45.
Hastings GE, et al. Inflammatory bowel disease: Part II. Medical and surgical management. Am Fam Physician 1993;47:811-18.
Ferry GD, et al. Olsalazine versus sulfasalazine in mild to moderate childhood ulcerative colitis: results of the Pediatric Gastroenterology Collaborative Research Group Clinical Trial. J Pediatr Gastroenterol Nutr. 1993;17:32-38.
Sandborn WJ, et al. Cyclosporine treatment of inflammatory bowel disease. Mayo Clin Proc. 1992;67:981-90.
Shanahan F, et al. Medical treatment of inflammatory bowel disease. Annu Rev Med. 1992;43:125-33.
Linn FV, et al. Drug therapy for inflammatory bowel disease: Part II. Am J Surg. 1992; 164:178-85.
Kirsner JB. Inflammatory bowel disease. Part II: Clinical and therapeutic aspects. Dis Mon. 1991;37:669-746.
FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No: 191390; Last Update: 6/20/01.
Report last updated: 2012/11/05 00:00:00 GMT+0