Whipple's disease: a fatal mimic

Area of Science:

• Infectious Diseases
• Rheumatology
• Pathology

Background:

• Whipple's Disease (WD) is a rare bacterial infection caused by Tropheryma whipplei.
• It typically presents with gastrointestinal malabsorption but can mimic rheumatic diseases, leading to diagnostic delays.

Observation:

• A case of a middle-aged woman with long-standing arthralgias initially diagnosed with seronegative rheumatoid arthritis is presented.
• She received immunosuppressive therapy for nearly 7 years, experiencing worsening diarrhea culminating in fatal hypovolemic shock/sepsis.

Findings:

• Autopsy confirmed widespread Tropheryma whipplei infection across multiple organ systems.
• Histochemical and molecular evaluations identified the bacteria, notably located deep within the submucosa and muscularis.

Implications:

• The deep bacterial location challenges the classic histopathologic description of WD, primarily involving the lamina propria.
• This case underscores the risk of misdiagnosing WD as rheumatic disease and the potential for fatal exacerbation with immunosuppressive therapy.
• It highlights the limitations of superficial endoscopic biopsies and the importance of considering WD in complex cases.