GE: Portuguese Journal of Gastroenterology (Dec 2019)

Whipple’s Disease: A Rare Cause of Malabsorption Syndrome

  • Joana Cardoso,
  • Lídia Gomes,
  • Sandra Santos,
  • Hélder Moreira,
  • Paula Gomes,
  • João Rua,
  • Jorge Fortuna

DOI
https://doi.org/10.1159/000504760

Abstract

Read online

Introduction: Whipple’s disease is a rare, chronic, systemic disease caused by the actinomycete Tropheryma whipplei. Clinical manifestations vary widely depending on the affected system, the most common being the digestive tract. Case Presentation: The authors report the case of a 52-year-old man with malabsorption syndrome, diarrhea, marked weight loss, melanoderma, and visual and proprioception disorders. Periodic acid-Schiff staining of a proximal small bowel biopsy and peripheral-blood PCR identification of T. whipplei confirmed the disease. The patient was initially treated with intravenous ceftriaxone, followed by oral trimethoprim/sulfamethoxazole with significant clinical improvement. Conclusions: This case is reported due to its rarity and the diagnostic challenge it presents. Although uncommon, Whipple’s disease should be considered as a differential diagnosis of malabsorption syndrome due to its systemic impact and possible treatment with targeted antibiotic therapy.

Keywords