Whipple disease mimicking inflammatory bowel disease

Area of Science:

• Gastroenterology
• Infectious Diseases
• Pathology

Background:

• Whipple disease is a rare systemic bacterial infection caused by Tropheryma whipplei.
• Diagnosis can be challenging due to non-specific symptoms and lack of standard diagnostic tests.

Observation:

• A 4-year-old female presented with chronic bloody diarrhea and growth retardation.
• Endoscopy revealed mild ileal edema and rectal/sigmoid erythema, leading to an initial ulcerative colitis diagnosis.

Findings:

• Histopathology showed foamy macrophages with PAS-positive material in the terminal ileum.
• PCR amplification of 16S rRNA from a biopsy confirmed Tropheryma whipplei.
• The patient improved with antibiotic therapy, with no signs of immunodeficiency.

Implications:

• Whipple disease should be considered in the differential diagnosis of inflammatory bowel disease, particularly before immunotherapy.
• Accurate diagnosis is vital as anti-TNF therapy can exacerbate Whipple disease.
• This case highlights the importance of integrating histopathology and molecular methods for diagnosing rare infections.