What is Whipple’s disease?
Whipple’s disease is a rare bacterial infection
primarily affecting the small intestine. It can also affect the heart, lungs,
brain, joints, and eyes. Left untreated, Whipple’s disease is fatal.
What causes Whipple’s disease?
Bacteria called Tropheryma whipplei (T. whipplei)
cause Whipple’s disease. T. whipplei infection can cause internal sores, also
called lesions, and the thickening of tissues. Villi, which are tiny fingerlike
projections that line the small intestine, take on an abnormal, clublike
appearance. The damaged intestinal lining fails to properly absorb nutrients,
causing diarrhea and malnutrition.
Scientists are unsure how T. whipplei infects people.
One theory is that some people are more vulnerable to Whipple’s disease—probably
due to genetic factors that influence the body’s immune system. This theory is
supported by the existence of a relatively high number of asymptomatic
carriers—people who have the bacteria in their bodies but don’t get sick. Also,
the bacteria are more common in the environment—showing up in soil and sewage
wastewater—than would be predicted based on the rareness of the disease. And
while multiple cases of Whipple’s disease have occurred within the same family,
no documentation exists of a person-to-person transmission.
Who gets Whipple’s disease?
Anyone can get Whipple’s disease, but it is more
common in middle-aged Caucasian men.
What are the signs and symptoms of Whipple’s disease?
Signs and symptoms of Whipple’s disease vary widely.
Classic signs and symptoms of Whipple’s disease include:
- periodic joint pain, with or without inflammation, that may persist for
years before the appearance of other symptoms
- chronic diarrhea, with or without blood
- weight loss
- abdominal pain and bloating
- fever
- fatigue
- anemia — a condition in which the blood has a lower-than-normal number
of red blood cells
Less common signs and symptoms of Whipple’s disease include:
- darkening of the skin
- enlarged lymph nodes
- chronic cough
- chest pain
- pericarditis — inflammation of the membrane surrounding the heart
- heart failure
Neurologic symptoms occur in some people diagnosed
with Whipple’s disease and can mimic symptoms of almost any other neurologic condition.
Neurologic symptoms of Whipple’s disease include:
- vision problems
- dementia
- facial numbness
- headache
- muscle weakness or twitching
- difficulty walking
- memory problems
Symptoms of neurologic, lung, or heart disease occasionally appear without gastrointestinal symptoms.
How is Whipple’s disease diagnosed?
Because Whipple’s disease is rare, the doctor may
first try to rule out more common conditions with similar symptoms, including:
- inflammatory rheumatic disease
- celiac disease
- various neurologic disorders
- intra-abdominal lymphoma
- Mycobacterium avium complex in people with AIDS
Whipple’s disease is diagnosed through a careful
evaluation of symptoms, endoscopy, and biopsy with tissue staining. Electron
microscopy and polymerase chain reaction (PCR) testing are used to confirm a diagnosis.
Endoscopy will be used to examine the lining of the
small intestine. An endoscope—a thin, flexible, lighted tube with a small camera
on the tip—is inserted through the mouth and stomach and into the small
intestine. The endoscope transmits images taken inside the small intestine to a
video monitor where a health care professional can view them.
A biopsy is performed during endoscopy to collect
samples of tissue from the lining of the small intestine for examination using
periodic acid-Schiff (PAS) staining. PAS is a magenta-colored stain that can
reveal T. whipplei-infected cells from thinly cut tissues when viewed with a
light microscope. Because PAS staining is nonspecific, meaning it can also stain
cells infected with other types of bacteria and fungi, many doctors choose to
confirm results with a second diagnostic test, such as electron microscopy or PCR testing.
Electron microscopy, which has a much greater
resolution than light microscopy, can be used to see T. whipplei bacteria inside
infected cells in the tissue taken through biopsy. T. whipplei have a unique
appearance easily identified by experienced laboratories.
PCR testing can detect and identify extremely low
levels of bacterial DNA in tissues and body fluids. The presence of T. whipplei
DNA in cerebrospinal fluid is an indication of neurologic Whipple’s disease. PCR
testing for Whipple’s disease is relatively new; therefore, results should be
supported by PAS staining or electron microscopy.
How is Whipple’s disease treated?
Whipple’s disease is treated with long-term antibiotics that kill T. whipplei bacteria.
Standard therapy for Whipple’s disease involves
initial treatment with intravenous (IV) antibiotics for 2 weeks, followed by
daily oral antibiotic treatment for 1 to 2 years. IV antibiotics are delivered
through a needle inserted into a vein. IV antibiotics used to treat Whipple’s
disease include ceftriaxone (Rocephin) and penicillin G (Pfizerpen) plus
streptomycin. Trimethoprim/sulfamethoxazole (Septra, Bactrim), a combination
oral antibiotic that can enter the cerebrospinal fluid and brain, is commonly
used to treat Whipple’s disease.
An alternative treatment for Whipple’s disease is a
combination of doxycycline (Vibramycin) plus the antimalarial drug
hydroxychloroquine (Plaquenil) taken for 12 to 18 months. Supporters of this
approach recommend that people with neurologic Whipple’s disease also take
long-term antibiotics that can enter the cerebrospinal fluid and brain, such as sulfamethoxazole.
What is the likely outcome for people with Whipple’s disease?
After treatment, the likely outcome for most people
with Whipple’s 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’s disease who relapse
tend to have much poorer health outcomes, including serious neurologic symptoms
and even death; therefore, some scientists argue
that all cases of Whipple’s disease should be considered neurologic. Relapsing
neurologic Whipple’s disease is sometimes treated with a combination of
antibiotics and weekly injections of interferon gamma (IFNγ) — a substance made by the body that activates the immune system.
For More Information
National Organization for Rare Disorders
55 Kenosia Avenue
P.O. Box 1968
Danbury, CT 06813–1968
Phone: 1.800.999.6673 or 203.744.0100
Fax: 203.798.2291
Email: orphan@rarediseases.org
Internet: www.rarediseases.org
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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