Whipple Disease: Unusual Presentation of a Protean and Sometimes Confusing Disease

Andrea Lo Monaco, Marcello Govoni, Angelo Zelante, Rosa Rinaldi, Anna Rita Scorrano, Michele Di Stefano, Francesco Trotta

Research output: Contribution to journalArticlepeer-review


Objectives: To describe an unusual case of Whipple disease (WD) with confusing clinical features at onset and to discuss the diagnostic challenges for the clinician. Methods: Description of a new case of this rare disease and thorough discussion of the atypical clinical manifestations at onset. A literature review, concerning the unusual onset, by means of a MEDLINE search from 1966 to 2007 was done. Results: A 39-year-old man with sudden bilateral blurred vision due to retinal vasculitis and concomitant rapidly evolving symmetrical neurosensory bilateral hearing loss as initial features of WD is described. Due to the clinical manifestations resembling systemic vasculitis, high-dose corticosteroid and pulse cyclophosphamide therapy were started with subsequent appearance of gastrointestinal symptoms (diarrhea and weight loss) and spiking fever, suggesting superimposed infection. After a complete evaluation, including gastroscopy, extensive duodenal-jejunal mucosal involvement was seen, while diffuse infiltration of the duodenal lamina propria with periodic acid-Schiff-positive foamy macrophages was observed on the histological sample. The diagnosis was confirmed by reverse transcriptase-polymerase chain reaction for the DNA of Tropheryma whippelii. To our knowledge, no previous similar clinical onset of WD has been described. Conclusions: To avoid misdiagnosis and therapeutic mistakes, clinicians should be aware of unusual presentations of WD. Because this etiological agent is a difficult to isolate bacterium, diagnosis may be especially problematic in cases without intestinal involvement at onset.

Original languageEnglish
Pages (from-to)403-406
Number of pages4
JournalSeminars in Arthritis and Rheumatism
Issue number5
Publication statusPublished - Apr 2009


  • infectious disease
  • retinal vasculitis
  • sudden hearing loss
  • Whipple disease

ASJC Scopus subject areas

  • Rheumatology
  • Anesthesiology and Pain Medicine


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