WHIPPLES-DISEASE WITHOUT MALABSORPTION - NEW ATYPICAL FEATURES

The diagnosis of Whipple's disease in the absence of intestinal involv ement is difficult and often overlooked. We describe five patients age d 8-71 years with normal jejunal biopsies and disparate clinical featu res, previously unrecognized in Whipple's; all were investigated at a single institution over a period of 18 months. Routine histological ex amination for periodic acid-Schiff (PAS) positive macrophages and poly merase chain reaction (PCR) analysis for Tropheryma whippelii was perf ormed on the small intestine in all patients. PCR analysis was also pe rformed on various tissues including peripheral blood, lymph node, mus cle, synovium and spleen in individual patients. Patients 1, 2, 4 and 5 had unusual presenting features not previously associated with Whipp le's: intractable immune thrombocytopenic purpura (ITP), juvenile chro nic arthritis, isolated muscle weakness and quadriparesis, respectivel y. Patient 3 presented with pyrexia of unknown origin. All patients ha d histologically normal small-bowel biopsies with no evidence of PAS p ositive macrophages. PCR for T. whippelii was positive in all patients in one or more tissues: peripheral blood, intestine, muscle, lymph no de and synovium. PAS-positive macrophages were found in 4/5 patients i n various sites: lymph node, muscle, spinal cord. Whipple's disease pr esents with protean clinical features and should be considered in gran ulomatous disorders of unknown aetiology even in the absence of gastro intestinal involvement.