Whipple's disease is caused by a bacterial infection. It can affect most organ systems but most commonly develops in the gastrointestinal tract. This disease is extremely rare, affecting only one in one million people. Little is known about the bacteria that causes this disease, and experts have identified few risk factors. Whipple's disease is primarily seen in Caucasian men between the ages of 40 and 60 in Europe and North America. People who work around wastewater or sewage are also at higher risk.
When Whipple's disease begins to affect the gastrointestinal system, the small intestine can no longer absorb the nutrients the body needs. This is called malabsorption, and the issue specifically affects the body's ability to effectively break down carbohydrates and fats.
Because the GI tract is most affected, the more common signs and symptoms of Whipple's disease develop within this system, usually starting slowly and preceded by joint pain. As the disease progresses, diarrhea, fever, abdominal pain that gets worse after eating, and unintentional weight loss often occur.
Other symptoms can develop concurrently with GI problems or on their own, depending on which area of the body Whipple's disease is affecting. Individuals may experience weakness, fatigue, and anemia, which may or may not be related to malabsorption. Facial or eye twitching, seizures, ataxia, confusion, vision impairment, and memory loss are significant neurological symptoms of Whipple's disease, and some people also experience darkening of the skin.
Bacteria called Tropheryma whipplei is the cause of Whipple's disease, and researchers know relatively little about it. There is no evidence that it can be transmitted from one person to another. Because Whipple's disease is prevalent in people exposed to soil and wastewater, experts believed the bacteria may reside there. It may also be a part of the natural body flora — it has been found in the saliva of healthy patients. Research has also uncovered a genetic predisposition for developing the infection.
A physical exam is the first step in reaching a diagnosis of Whipple's disease. This includes looking for symptoms like skin darkening and assessing GI health. Blood tests detect conditions associated with Whipple's disease. Specifically, doctors often test for anemia, which occurs when the red blood cell count is low. They will also check the blood albumin level. Low levels of this protein in the blood can indicate Whipple's disease.
One of the most important diagnostic tools for uncovering Whipple's disease is a biopsy. To obtain a sample, a doctor will perform an endoscopy. This involves passing a thin tube through the mouth, esophagus, and stomach to access the small intestine. Tissue samples collected during the endoscope procedure are examined under a microscope for signs of the bacteria. A specialized DNA test called polymerase chain reaction can also confirm the disease.
Since Whipple's disease is caused by bacteria, it is treated with antibiotics. While it may take years to completely eradicate the bacteria, symptom relief usually comes quickly, sometimes within the first week or two. Unless there is neurological damage, most people completely recover from Whipple's disease. Treatment is intense, including weeks on intravenous antibiotics followed by a one- to two-year course of oral antibiotics. Some people develop resistance to the treatment, requiring a variety of drugs over the period.
In addition to antibiotics to eliminate the bacteria, individuals may require additional treatments. Malabsorption in the GI tract can call for fluid and electrolyte replacement to avoid malnutrition. Supplements may include iron, calcium, vitamin D, and other important electrolytes to maintain proper heart and brain function.
When detected and treated quickly, most people with Whipple's disease affecting the GI system recover completely. Relapse is common, however. Patients should be diligent about watching for the return of any symptoms. When Whipple's disease occurs in the neurological system, outcomes are not as positive and can result in serious neurological deficits and even death.
Some long term complications can result from Whipple's disease. When it happens in the GI system, it damages the villi, the thin hair-like projections in the small intestine that absorb nutrients. This leads to nutritional deficiencies and necessitates supplements. Although the disease can be cured, it is important to catch it early. If Whipple's disease spreads to the nervous system, it can cause irreversible damage and become fatal.
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