Disease: Whipple's disease

Whipple's disease is a rare bacterial infection that most often affects your gastrointestinal system. Whipple's disease interferes with normal digestion by impairing the breakdown of foods, such as fats and carbohydrates, and hampering your body's ability to absorb nutrients.

Whipple's disease also can infect other organs, including your brain, heart, joints and eyes.

Without proper treatment, Whipple's disease can be serious or fatal. However, a course of antibiotics can treat Whipple's disease.

Source: http://www.mayoclinic.com

Common signs and symptoms

Gastrointestinal signs and symptoms are common in Whipple's disease and may include:

  • Diarrhea
  • Abdominal cramping and pain, which may worsen after meals
  • Weight loss, associated with the malabsorption of nutrients

Other frequent signs and symptoms associated with Whipple's disease include:

  • Inflamed joints, particularly your ankles, knees and wrists
  • Fatigue
  • Weakness
  • Anemia

Less common signs and symptoms

In some cases, signs and symptoms of Whipple's disease may include:

  • Fever
  • Cough
  • Enlarged lymph nodes
  • Skin darkening (hyperpigmentation) in areas exposed to the sun and in scars
  • Chest pain
  • Enlarged spleen

Neurological signs and symptoms may include:

  • Difficulty walking
  • Visual impairment, including lack of control of eye movements
  • Seizures
  • Confusion
  • Memory loss

Symptoms tend to develop slowly over a period of many years in most people with this disease. In some cases, some symptoms, such as joint pain and weight loss, develop years before the gastrointestinal symptoms that lead to diagnosis.

When to see a doctor

Whipple's disease is potentially life-threatening, yet usually treatable. Contact your doctor if you experience unusual signs or symptoms, such as unexplained weight loss or joint pain. Your doctor can perform tests to determine the cause of your symptoms.

Even after the infection is diagnosed and you're receiving treatment, let your doctor know if your symptoms don't improve. Sometimes antibiotic therapy isn't effective because the bacteria are resistant to the particular drug you're taking. The disease can recur, so it's important to watch for the re-emergence of symptoms.

Source: http://www.mayoclinic.com

The cause of Whipple's disease is infection with the bacterium Tropheryma whipplei. This bacterium initially affects the mucosal lining of your small intestine, forming small lesions within the intestinal wall. The bacterium also damages the fine, hair-like projections (villi) that line the small intestine. With time, the infection can spread to other parts of your body.

Not much is known about the bacterium. Although it seems readily present in the environment, scientists don't really know where it comes from or how it's transmitted to humans. Not everyone who carries the bacterium develops the disease. Some researchers believe that people with the disease may have a genetic defect in their immune system response that makes them more susceptible to becoming ill when exposed to the bacterium.

Whipple's disease is extremely uncommon.

Source: http://www.mayoclinic.com

The process of diagnosing Whipple's disease typically includes the following tests:

  • Physical exam. Your doctor will likely begin with a physical exam, looking for signs and symptoms that suggest the presence of this condition — for example, abdominal tenderness and skin darkening, particularly on sun-exposed parts of your body.
  • Biopsy. An important step in diagnosing Whipple's disease is taking a tissue sample (biopsy), usually from the lining of the small intestine. To do this, your doctor typically performs an upper endoscopy. The procedure uses a thin, flexible scope that passes through your mouth, throat, esophagus and stomach to your small intestine. The scope allows your doctor to view your digestive passages and obtain biopsies.

    During the procedure, tissue samples are removed from several intestinal sites. This tissue is microscopically examined for the presence of disease-causing bacteria and their lesions, and specifically for Tropheryma whipplei bacteria. If biopsies of the small intestine don't confirm the diagnosis, your doctor might biopsy an enlarged lymph node or perform other tests.

    A DNA-based test known as polymerase chain reaction, which is available at some medical centers, can detect Tropheryma whipplei bacteria in biopsy specimens or spinal fluid samples.

  • Blood tests. Your doctor may also order blood tests, such as a complete blood count. Blood tests can detect certain conditions associated with Whipple's disease, particularly anemia, which is a decline in the number of red blood cells, and low concentrations of albumin, a protein in your blood.

Biopsy. An important step in diagnosing Whipple's disease is taking a tissue sample (biopsy), usually from the lining of the small intestine. To do this, your doctor typically performs an upper endoscopy. The procedure uses a thin, flexible scope that passes through your mouth, throat, esophagus and stomach to your small intestine. The scope allows your doctor to view your digestive passages and obtain biopsies.

During the procedure, tissue samples are removed from several intestinal sites. This tissue is microscopically examined for the presence of disease-causing bacteria and their lesions, and specifically for Tropheryma whipplei bacteria. If biopsies of the small intestine don't confirm the diagnosis, your doctor might biopsy an enlarged lymph node or perform other tests.

A DNA-based test known as polymerase chain reaction, which is available at some medical centers, can detect Tropheryma whipplei bacteria in biopsy specimens or spinal fluid samples.

Source: http://www.mayoclinic.com

The lining of your small intestine has fine, hair-like projections (villi) that help your body absorb nutrients. Whipple's disease damages the villi, impairing nutrient absorption. Nutritional deficiencies are common in people with Whipple's disease and can lead to fatigue, weakness, weight loss and joint pain.

Whipple's disease is a progressive and potentially fatal disease. Although the infection is rare, associated deaths continue to be reported, due in large part to late diagnoses and delayed treatment. Death often is caused by the spread of the infection to the central nervous system, which can cause irreversible damage.

Source: http://www.mayoclinic.com

Because so little is known about the bacterium that causes Whipple's disease, risk factors for the disease haven't been clearly identified. Based on available reports, it appears more likely to affect:

  • Men
  • People ages 40 to 60
  • Whites in North America and Europe

Source: http://www.mayoclinic.com

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