How is Whipple’s disease diagnosed? return
to first page of Whipples
disease is rare, the doctor may first try to rule out more
common conditions with similar symptoms, including
inflammatory rheumatic disease
Mycobacterium avium complex in people with AIDS
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
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.
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?
is treated with long-term antibiotics that kill T. whipplei
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
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.
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
Points to Remember
disease is a rare bacterial infection primarily affecting the
small intestine. It can also affect the heart, lungs, brain,
joints, and eyes.
Bacteria called Tropheryma whipplei (T.
whipplei) cause Whipple’s disease.
Scientists are unsure how
T. whipplei infects people.
Whipple’s disease is most common
in middle-aged Caucasian men.
Classic signs and symptoms of
Whipple’s disease include joint pain, chronic diarrhea, weight
loss, abdominal pain and bloating, fever, fatigue, and anemia.
Neurologic symptoms of Whipple’s disease can mimic those of
almost any other neurologic condition.
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
Whipple’s disease is treated with long-term
antibiotics that kill T. whipplei bacteria.
the likely outcome for most people with Whipple’s disease is
People with neurologic Whipple’s disease who relapse
tend to have much poorer health outcomes, including serious
neurologic symptoms and even death.
continue to neurological symptoms of Whipples and treatment
Peripheral neuropathy in Whipples disease:
a case report.
Rusina R, Keller O, Síma R, Zámečník J.
Department of Neurology,
Thomayer Teaching Hospital, Prague, Czech Republic.
is a chronic multisystem inflammatory disease with
predominantly gastrointestinal manifestations due to
Tropheryma whipplei infection. Typical neurological
abnormalities include dementia, eye movement
abnormalities, hypothalamic dysfunction and
oculomasticatory myorhythmias. The literature on
peripheral neuropathy in Whipples disease
is sparse and the involvement of peripheral nerves in Whipples disease
has not been documented convincingly so far. We present
a case of Whipples disease
presenting by axonal peripheral neuropathy without
gastrointestinal involvement. The diagnosis was
confirmed by a sural nerve biopsy and consequent PCR of
the sample. All clinical signs disappeared progressively
during the antibiotic therapy. Two years after the T.
whipplei infection, the patient developed dopa-sensitive
Parkinson's disease, although these two events seem to
be unrelated. This case illustrates the value of
peripheral nerve biopsy in cases of axonal neuropathy of
unexplained origin and extends the clinical spectrum of Whipples disease
to a new modality.