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Diagnostic Approach for Classic Compared With Localized Whipple Disease
Nicholas R Crews1, Kelly A Cawcutt2, Bobbi S Pritt3,4
1Division of Gastroenterology and Hepatology, Indiana University, Indianapolis, Indiana.
Open Forum Infectious Diseases
|July 12, 2018
Summary
Whipple disease diagnosis varies. Small bowel biopsy is key for classic WD, but PCR in joint fluid is vital for localized arthritis or CNS Whipple disease (WD) without GI symptoms.
Area of Science:
- Infectious Diseases
- Microbiology
- Gastroenterology
Background:
- Whipple disease (WD) is a rare systemic infection by *Tropheryma whipplei*, posing diagnostic challenges due to varied presentations.
- Current diagnostics rely on small bowel biopsy with Periodic acid-Schiff (PAS) staining as the gold standard, with the role of *T. whipplei* polymerase chain reaction (PCR) being unclear.
- Individualized diagnostic strategies tailored to clinical manifestations are underutilized.
Purpose of the Study:
- To investigate the diagnostic methodologies employed for Whipple disease at a single institution.
- To analyze the diagnostic approach and test yield across different clinical phenotypes of WD.
Main Methods:
- Retrospective collection of 33 Whipple disease cases diagnosed between 1994 and 2016.
- Review of microbiology laboratory and anatomic pathology databases.
- Description of case characteristics and clinical phenotypes (classical, localized arthritis, CNS disease), followed by analysis of diagnostic approach and testing yield.
Main Results:
- Small bowel biopsy PAS stain and PCR were highly positive in classic WD (86%/92%) but rarely positive in localized WD arthritis (12%/42%).
- PCR of affected joint synovial fluid was frequently positive in both classic WD (100%) and localized WD arthritis (85%).
- Misdiagnosis and diagnostic delays were common.
Conclusions:
- Small bowel biopsy PAS stain/PCR is valuable for diagnosing classic WD but may have limited utility for localized WD arthritis or CNS WD without GI symptoms.
- PCR of joint synovial fluid or cerebrospinal fluid is diagnostically useful for both classic and localized WD.
- Diagnostic strategies should be individualized based on clinical presentation.
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