Whipple disease
Overview
Whipple's disease is a rare infectious disease that typically infects the bowel. It causes malabsorption primarily but may affect any part of the body including the heart, lungs, brain, joints, and eyes. It interferes with the body's ability to absorb certain nutrients. Whipple's disease causes weight loss, incomplete breakdown of carbohydrates or fats, and malfunctions of the immune system. When recognized and treated, Whipple's disease can usually be cured. Untreated, the disease may be fatal.
Symptoms
Arthritis up to 75% or arthralgia. Usually oligo- or polyarticular, symmetric, transient and can be chronic. Malabsorption Intestinal lipodystrophy (accumulation of fatty deposits in lymph nodes of the intestine) Lymphadenopathy Abdominal pain Diarrhea Fever Melanoderma Neurological symptoms * Cognitive changes * Nystagmus * Oculomasticatory myorhythmia (OMM) (pendular vergence oscillations of the eyes and synchronous contractions of the masticatory but not palatal muscles) is pathognomonic of Whipple disease
Diagnosis
Common clinical signs and symptoms of Whipple's disease include weight loss, diarrhea, joint pain or arthritis, fever, and adenopathy. Diagnosis is made by intestinal biopsy, which reveals presence of the organism as PAS-positive macrophage inclusions. Immunohistochemical staining for antibodies against T. whipplei has been used to detect the organism in a variety of tissues, and a confirmatory PCR-based assay is also available. 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.
Treatment
Treatment is with penicillin, ampicillin, tetracycline or co-trimoxazole for 1 -2 years. Any treatment lasting less than a year has an approximate relapse rate of 40%. In the January 4, 2007 issue of the New England Journal of Medicine, Fenollar et al suggest the use of doxycycline with hydroxychloroquine for 12 to 18 months. Sulfonamides (sulfadiazine or sulfamethoxazole) should be added for treatment of neurological symptoms