Whippleʼs Disease

Abstract

Purpose: A 52 year-old healthy Caucasian female presented with two weeks of abdominal pain, vomiting, and fevers. She had lost 40 pounds over eight months. She denied diarrhea or family history of gastrointestinal disorders. Physical examination revealed a temperature of 38.2 degrees Celsius. Upper abdomen was tender to palpation. There was no peripheral lymphadenopathy. White blood cell count was 24.7 thousand/mL. Hemoglobin was 9.3 g/dL with MCV 78. Albumin was 2.7 g/dL. Computed tomography of the abdomen and pelvis revealed retroperitoneal and mesenteric lymphadenopathy as well as omental thickening. Excisional omental lymph node resection was performed, yielding architectureal effacement, histiocytic infiltrate, and fatty cysts. On flow cytometry, an aberrant B-cell population was identified, but cytogenetic and molecular testing were normal, as was bone marrow biopsy. Upper endoscopy revealed thickened, boggy folds and white plaques in the duodenum. Distal duodenal biopsies showed thickened, clubbed villi and histiocytic infiltration with a positive periodic acid-schiff (PAS) stain. Electron microscopy was performed, allowing the identification of bacillary organisms with a trilamellar wall. Whipple's disease is a systemic disease caused by Tropheryma whipplei, a gram-positive bacillus closely related to Actinobacter. It is more common in men than women. While any system may be affected, it classically presents with weight loss, chronic diarrhea, and migratory arthralgias. Fever, anemia and lymphadenopathy are also common, which may initially lead to efforts toward diagnosing lymphoma. Neurologic involvement may be isolated from other symptoms and can be irreversible, causing higher morbidity and mortality despite treatment. Diagnosis is secured by distal duodenal biopsy, which reveals thickening or clubbing of the villous architecture and histiocytic infiltration. PAS stain is positive, and electron microscopy reveals the bacillus with the typical trilamellar wall. Polymerase chain reaction is confirmatory but not routinely performed. Treatment with antibiotics is imperative, although the ideal regimen and duration has not been clearly established. A two week course of a third-generation cephalosporin followed by one to two years of trimethoprim/sulfamethoxazole has been generally recommended. This case illustrates both classic and unusual features of Whipple's disease and highlights the necessity of having a high index of suspicion for this rare disease, even when faced with common symptoms. Methods: N/A Results: N/A Conclusion: N/A