Whipple disease

Other Names: Intestinal lipodystrophy; Intestinal lipophagic granulomatosis; Secondary Non-tropical Sprue; Tropheryma whippelii infection

Whipple disease is an infectious bacterial disease that affects many different organ systems and interferes with the body's ability to process (metabolize) fats. The disease usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes. In the gastrointestinal system, it interferes with the body's ability to absorb certain nutrients. This leads to a condition known as malabsorption. Whipple disease causes weight loss, incomplete breakdown of carbohydrates or fats, and problems with the immune system.

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High magnification micrograph showing the characteristic foamy macrophages in the lamina propria. H&E stain.

Cause

Whipple disease is caused by infection from bacteria called Tropheryma whipplei (or Tropheryma whippelii).

Riskfactors

It seems that these bacteria are common in soil or water, and many reports of disease occur in patients who work in trades where they have frequent contact with soil such as agriculture and construction. The bacteria may also be part of the normal flora of the body. One study revealed its presence in saliva in 35% of a sample of 40 healthy patients.These findings, and the fact that Whipple disease is more common in people who have an antigen known as HLA-B27 suggest that there may be a genetic predisposition (susceptibility) in those people with the disease, resulting in an abnormal host response to a microorganism that occurs frequently in humans.

Symptoms

Symptoms of Whipple disease can vary from person to person and may affect many systems of the body. Some of the most common symptoms, occurring in the majority of people with Whipple disease, include:

• Weight loss.
• Diarrhea.
• Joint pain.

Other signs and symptoms may include:

• Neurological symptoms such as eye and facial muscle abnormalities, confusion, seizures, ataxia, memory loss, and vision impairment.
• Fatigue.
• Weakness.
• Abdominal bleeding.
• Abdominal pain.
• Fever.
• Loss of appetite.
• Darkening of the skin

Diagnosis

Endoscopy of the duodenum and jejunum can reveal pale yellow shaggy mucosa with erythematous eroded patches in patients with classic intestinal Whipple's disease, and small bowel X-rays may show some thickened folds.

Other pathological findings may include enlarged mesenteric lymph nodes, hypercellularity of lamina propria with "foamy macrophages", and a concurrent decreased number of lymphocytes and plasma cells, per high power field view of the biopsy.

Diagnosis is made by biopsy, usually by duodenal endoscopy, which reveals PAS-positive macrophages in the lamina propria containing non-acid-fast gram-positive bacilli. Immunohistochemical staining for antibodies against T. whipplei has been used to detect the organism in a variety of tissues, and a PCR-based assay is also available.

PCR can be confirmatory if performed on blood, vitreous fluid, synovial fluid, heart valves, or cerebrospinal fluid.PCR of saliva, gastric or intestinal fluid, and stool specimens is highly sensitive, but not specific enough, indicating that healthy individuals can also harbor the causative bacterium without the manifestation of Whipple's disease, but that a negative PCR is most likely indicative of a healthy individual.

Treatment

The standard treatment for Whipple disease is a prolonged course of antibiotics to destroy the bacteria that cause the disease. A medicine called ceftriaxone 2g, or penicillin G are commonly given intravenously as a first option. These antibiotics are typically followed by another antibiotic (such as trimethoprim-sulfamethoxazole) taken by mouth for up to 1 year. If symptoms come back during antibiotic use, the antibiotic treatment may be changed.

Depending on the seriousness of the disease, treatment may also include fluid and electrolyte replacement. Electrolytes are salts and other substances in body fluid that the heart and brain need to function properly. Extra iron, folate, vitamin D, calcium, and magnesium may also be given to help compensate for the vitamins and minerals the body cannot absorb on its own.

Full recovery of the small intestine may take up to 2 years, but the symptoms usually disappear in less time. Because relapse is common even after successful treatment, the health care team may continue to monitor the patient for many years.

Prognosis

After treatment, the likely outcome for most people with Whipple disease is good. Most symptoms disappear in about 1 month. Relapse is common, however, highlighting the need to closely watch for a return of symptoms. Endoscopy with small intestinal biopsy followed by PAS staining and electron microscopy or PCR testing should be repeated 1 year after the start of treatment.

People with neurologic Whipple disease who relapse tend to have much poorer health outcomes, including serious neurologic symptoms and even death; therefore, some researchers argue that all cases of Whipple disease should be considered neurologic. If left untreated, progression to death may come as quickly as 1 month after CNS involvement begins.

NIH genetic and rare disease info

• NIH info on Whipple disease

Whipple disease is a rare disease.

Whipple disease Resources
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