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Whipple disease is a rare disease resulting from bacterial infection that leads to inadequate absorption of nutrients (malabsorption) from the intestine. It is believed to result from infection with bacteria known as Tropheryma whippelii. The infection usually involves the small intestine, but over time, the disease may affect various parts of the body, including the heart, lungs, brain, and eyes.
The major symptoms of Whipple disease include abdominal pain after eating, joint pain, bouts of diarrhea, cough, chest pain, general weakness, and night sweats. Typically there is fat present in the stool (steatorrhea). Weight loss may occur because of a profound lack of appetite (anorexia). Anemia may result due to insufficient levels of iron, and pain may occur in several widely scattered joints (polyarthritis).
Other symptoms of Whipple disease may include: abnormally enlarged lymph nodes that are firm but usually not tender, an abnormally enlarged spleen (splenomegaly), increased color (pigmentation) of the skin, a decrease in blood pressure (hypotension), and abnormally high fevers that come and go. Some people with this disorder may experience a decrease in intellectual abilities, and an impairment of memory, judgment, and/or abstract thought. Occasionally, the loss of intellectual skills progresses to dementia. Eye movements may be impaired and uncontrolled muscular movements (myoclonus) may occur when Whipple disease has affected the brain or central nervous system. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.)
The central nervous system is affected in the later stages of untreated Whipple disease. Symptoms of neurological involvement may include hearing loss, persistent ringing in the ears (tinnitus), and impairment of vision. (For more information on this disorder, choose "Tinnitus" as your search term in the Rare Disease Database.) In rare cases of this disorder, the heart may be affected resulting in congestive heart failure and/or inflammation of the membranes that surround the heart (pericarditis).
If Whipple disease remains untreated and malabsorption from the small intestine becomes worse, the affected person may have low levels of circulating calcium and magnesium in the blood (hypokalemia and hypomagnesemia) resulting in muscle cramps, convulsions, and twitching (tetany). Damage to the nerves, especially those of the arms and legs (peripheral neuropathy) may also occur. (For more information on these disorders, choose "Neuropathy, Peripheral" as your search term in the Rare Disease Database.)
Whipple disease is caused by a rod-shaped bacterium called Tropheryma whippelii. This bacterium was first identified in 1991/92. Its natural habitats are unknown, but it appears likely that infection occurs by way of an environmental source and that the bacteria are introduced into the body through the mouth (peroral).
Whipple disease affects more males than females in a ratio of approximately 4 to 1. The symptoms of this disorder typically begin between the ages of thirty and sixty years. The age range of those affected is thought to be between 30 and 80, with the median age at time of diagnosis being 56 years. Most of the cases of Whipple disease have been diagnosed among Europeans and Americans of European parentage. In Germany, the disease incidence has been estimated at 0.4 per million population per year. A few cases have been reported among American Indians and Americans of African descent. In 2004, for the first time, a case of Whipple disease was reported in Japan.
Symptoms of the following disorders can be similar to those of Whipple disease. Comparisons may be useful for a differential diagnosis:
Crohn's disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. Symptoms may include vomiting, fever, night sweats, loss of appetite, general weakness, and waves of abdominal pain and discomfort. Diarrhea and bleeding from the rectum are common in people who have Crohn's disease. Weight loss is also common. The symptoms of this disorder can be difficult to manage and diagnosis is often delayed. (For information on this disorder, choose "Crohn's Disease" as your search term in the Rare Disease Database.)
Ulcerative colitis is an acute inflammatory bowel disease characterized by diarrhea and blood in the stools because of multiple, irregular ulcerations of the bowel. The initial symptoms of this disorder may include a general feeling of weakness (malaise) and fatigue. There may be abdominal discomfort, along with a change in the frequency and consistency of stools. Other symptoms may include abdominal pain, cramping, and urgency (tenesmus). Weight loss and a decrease in appetite are also associated with ulcerative colitis. (For more information on this disorder, choose "Ulcerative Colitis" as your search term in the Rare Disease Database.)
Primary sclerosing cholangitis is a rare collagen disorder involving inflammation and blockage of the bile duct, liver ducts, and gallbladder. Symptoms of this disorder include abdominal pain, loss of appetite, nausea, vomiting, and/or weight loss. Later symptoms may include a yellow discoloration to the skin (jaundice), fever, chills, and/or itching of the skin. Bacterial infections may be associated with bile duct blockages of primary sclerosing cholangitis. (For more information on this disorder, choose "Primary Sclerosing Cholangitis," as your search term in the Rare Disease Database.)
Chronic erosive gastritis is an inflammatory digestive disorder characterized by multiple lesions in the mucus lining of the stomach. Symptoms of this disorder may include burning or a heavy feeling in the stomach, mild nausea, vomiting, loss of appetite and general weakness. In severe cases of chronic erosive gastritis there may be bleeding from the stomach that can result in anemia. (For more information on this disorder, choose "Chronic Erosive Gastritis" as your search term in the Rare Disease Database.)
Irritable bowel syndrome, also known as spastic colon, is a common digestive disorder that involves both the small intestine and the large bowel. This disorder is characterized by abdominal pain, constipation, bloating, nausea, headache, and/or diarrhea. The spastic colon type of this syndrome is characterized by variable bowel movements and abdominal pain that is associated with periodic constipation or diarrhea. Those patients with irritable bowel syndrome who have painless diarrhea may experience an urgent need to defecate upon arising. (For more information on this disorder, choose "Irritable Bowel Syndrome" as your search term in the Rare Disease Database.)
Intestinal pseudoobstruction is a gastrointestinal disorder characterized by a lack of motility of the intestine. This condition resembles a true obstruction although there is no evidence of any physical obstruction. Symptoms may include constipation, colicky pain, vomiting, and weight loss. Intestinal pseudoobstruction may also affect speech, muscle activity, and the nervous system. (For more information on this disorder, choose "Intestinal Pseudoobstruction, Intestinal" as your search term in the Rare Disease Database.)
Giant hypertrophic gastritis is a chronic disorder characterized by the presence of large, coiled ridges or folds, in the inner wall of the stomach. Symptoms include abdominal pain or discomfort and tenderness in the upper middle region of the abdomen. Other symptoms may include a profound loss of appetite, nausea, vomiting, and diarrhea. (For more information on this disorder, choose "Giant Hypertrophic Gastritis" as your search term in the Rare Disease Database.)
Acquired immune deficiency syndrome (AIDS) is an immunosuppressive disorder caused by infection with the human immunodeficiency virus (HIV). The immune deficiency is a result of a viral infection and the destruction of specific T cells. Initially HIV infection is characterized by a period without symptoms. This may be followed by the development of swollen lymph nodes (lymphadenopathy). Eventually most people with acquired immune deficiency syndrome experience a progression of symptoms that occur as a result of a compromised immune system. When a person with AIDS has an intestinal infection with Mycobacterium avium intracellulare, the symptoms may be confused with those of Whipple disease. (For more information on this disorder, choose "AIDS" as your search term in the Rare Disease Database.)
The standard diagnostic approach is to study a tissue sample (biopsy) from the small intestine. Blood testing can determine whether anemia is present. Confirmation of diagnosis can be achieved either by electron microscopy or by a test known as polymerase chain reaction (PCR) analysis, which detects the DNA of T. whippelii.
If not treated, Whipple disease can become life-threatening. It can be cured, however, with antibiotics. Various types and combinations of antibiotics have been used. Relapses may occur, either during therapy or after it has been completed. For that reason, antibiotic therapy may be extended over a long period of time (up to a year or longer). One combination of antibiotics considered to be effective is trimethoprim-sulfamethoxazole, but there are also several alternatives. If symptoms reappear during therapy, a change in the antibiotic regimen may be needed. Complete healing may require as long as two years.
Some patients with severe intestinal malabsorption caused by Whipple disease may need the intravenous administration of fluids and electrolytes. Other patients may require iron, folate supplements, vitamin D, and calcium. Since most patients with this disorder suffer from malnutrition, the recommended diet is usually high in calories and protein. Both diet and antibiotics must be monitored regularly by a physician.
While the symptoms of WD may improve rapidly with long-term antibiotic therapy, biopsy may reveal bacteria in the small intestine for up to two years. Whipple's disease has been completely reversed by antibiotic therapy. The absence of bacilliform (rod shaped bacteria) in a biopsy sample of the small bowel typically suggests remission and possible cure.
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FROM THE INTERNET
Whipple's Disease. National Digestive Diseases Information Clearinghouse (NDDIC). September 2004. 3pp.
European Research Project on Whipple's Disease.
Feurle GE. Whipple's Disease. Orphanet. Update: December 2004. 3pp.
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Report last updated: 2009/04/08 00:00:00 GMT+0