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Whipple's Disease

Definition:
Whipple's disease is a rare bacterial infection that most often affects your gastrointestinal system. It interferes with normal digestion, impairing the breakdown of foods such as fats and carbohydrates and hampering your body's ability to absorb nutrients. This absorption problem occurs when the infection damages the lining of your small intestine.

In addition to affecting your intestinal tract, Whipple's disease can infect other organs, including your brain, heart, joints and eyes. Whipple's disease, also called intestinal lipodystrophy, was identified by physician and Nobel Prize winner George Whipple in 1907.

No matter which part of your body Whipple's disease affects, a lengthy course of antibiotics can provide successful treatment. But without proper treatment, Whipple's disease can be fatal.

Causes:
The cause of Whipple's disease is infection with the bacterium Tropheryma whippelii, also known as Whipple bacillus. This bacterium can initially affect the mucosal lining of your small intestine, forming small lesions within the intestinal wall. With time, the infection can spread to other parts of your body.

Cases of Whipple's disease have been noted to run in families. 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.

Risk Factor:
Risk factors associated with Whipple's disease haven't been clearly identified. Nevertheless, the condition is more likely to affect men than women — about 80 percent of cases occur in males — with the greatest prevalence in the 30 to 60 age group. The disease occurs most commonly in whites in North America and Europe, with a much lower frequency among Hispanic, black, Asian and American Indian populations.

When to seek medical advice:
Because Whipple's disease is potentially life-threatening yet treatable, contact your doctor immediately if you develop symptoms of weight loss and abdominal pain. He or she 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. Even after successful therapy the disease can recur, so it's important to watch for the re-emergence of symptoms that could be associated with the condition.

Symptoms:
Many common signs and symptoms of Whipple's disease involve the gastrointestinal system and include:
  • Diarrhea
  • Abdominal cramping and pain
  • Weight loss, associated with the malabsorption of nutrients
  • Inflamed joints, particularly your ankles, knees and wrists

Abdominal pain tends to worsen after meals in some cases.

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

  • Fatigue
  • Weakness
  • Anemia

Less common signs and symptoms are:

  • Low-grade fever
  • Cough
  • Enlarged lymph nodes
  • Difficulty walking
  • Skin darkening (hyperpigmentation) in areas exposed to the sun, and in scars
  • Visual impairment, including lack of control of eye movements
  • Discomfort while breathing, due to inflammation of the membranes lining the lungs (pleurisy)
  • Heart murmurs
  • Enlarged spleen
  • Seizures
  • Confusion
  • Memory loss

Symptoms tend to develop slowly over a period of several years in most people with the disease.

Diagnosis:
Whipple's disease is rare and many doctors may be unfamiliar with the disorder, so it's often diagnosed in its late stages. However, the earlier the diagnosis, the better because of the serious health risks associated with nontreatment.

To diagnose Whipple's disease, your doctor may begin with a complete physical exam, looking for signs and symptoms that suggest the presence of the condition — for example, abdominal tenderness and skin darkening, particularly on sun-exposed parts of your body.

An important step in diagnosing is taking a tissue sample (biopsy), most often obtained from the lining of the small intestine. In this procedure, a thin rubber tube with a small capsule attached is passed through your mouth and stomach and into your small intestine. Suction is applied to the tube, squeezing off a small surface piece of the intestinal mucous membrane. The tube is removed, and the tissue sample is retrieved from the capsule.

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

Your doctor may also order blood tests, such as a complete blood count (CBC). These 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.

Complications:
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 nervous system, heart and brain. In many of these cases, the diagnosis isn't made until an autopsy is done.

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.

Treatment:
Treatment of Whipple's disease is with antibiotics, which can destroy the bacteria and the lesions they've caused. Use of antibiotics is considered a lifesaving therapy.

Your doctor may choose from a number of antibiotics, all of which have proved effective in treating Whipple's disease, either alone or in combination. They include:

  • Sulfasalazine (Azulfidine)
  • Trimethoprim-sulfamethoxazole, or TMP-SMX (Bactrim, Septra)
  • Ceftriaxone
  • Tetracycline
  • Doxycycline
  • Erythromycin
  • Streptomycin
  • Ampicillin
  • Penicillin G

Long course of treatment
Treatment is long term, and doctors may prescribe a variety of drug doses and schedules. A typical course of therapy requires hospitalization, with 14 days of intravenous (IV) ceftriaxone, followed by oral doses of TMP-SMX for one to two years on an outpatient basis. A shorter duration of antibiotic treatment may lead to a relapse.

Another common treatment begins with 14 days of IV infusions of streptomycin and penicillin G, followed by oral TMP-SMX for one to two years.

For the most serious cases, fluids and electrolyte replacement via IV drip may be added during initial hospitalization. Electrolytes are minerals such as sodium, potassium and calcium that maintain the balance of fluids in your body.

Because of the lengthy use of antibiotics, your doctor will need to monitor your condition for development of resistance to the drugs.

When choosing antibiotics, doctors often select those that not only eradicate infections of the intestinal tract, but also cross the blood-brain barrier — a layer of tissue around your brain — in order to eliminate bacteria that may have entered your brain and central nervous system.

Possible rapid relief
Relief of symptoms tends to be rapid with proper antibiotic treatment. If you're experiencing joint pain, you may notice improvement in only a few days. Your diarrhea may go away within a week, and weight gain may begin just as soon.

Most other symptoms should subside within one to three months. But even though symptoms improve quickly, further laboratory tests may reveal presence of the bacteria for up to two years after you begin taking antibiotics. Follow-up testing will help your doctor determine when you can stop taking antibiotics. Regular monitoring can also indicate occurrence of resistance to a particular drug, often reflected in a lack of improvement of your symptoms.

To manage joint pain, your doctor may recommend a nonsteroidal anti-inflammatory medication, such as ibuprofen, as well.

Even after successful treatment, Whipple's disease can recur. Doctors usually advise regular checkups. If you've experienced a recurrence, you'll need to repeat antibiotic therapy.

Taking supplements
Because of the nutrient-absorption difficulties associated with Whipple's disease, your doctor may recommend taking vitamin and mineral supplements to ensure adequate nutrition. Your body may require additional vitamin D, folic acid, calcium, iron and magnesium.

 
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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