Whipple disease diagnosed by enteroscopy: first case report in Colombia of an underdiagnosed disease and literature review

Abstract

Background: Whipple's disease is a rare systemic disease caused by a gram-positive bacillus called Tropheryma whipplei. First described in 1907 as an intestinal lipodystrophy with histological finding of vacuoles in the macrophages of the intestinal mucous. Usually the symptoms are localized according to the compromised organ. The differential diagnosis is wide. It can be fatal without proper treatment. Recurrence can occur in up to 33% of the cases and usually compromises the neurological system.

Case presentation: This article reports the case of a 46-year-old female patient with a history of a 6-month hypochromic microcytic anemia of unknown cause. She consulted for a 6-months oppressive abdominal pain located in the mesogastrium as well as abdominal distention associated with nausea and liquid stools; in addition, she had an 8-month small and medium joint pain, without edema or erythema. Physical examination without relevant findings. Multiple esophagogastroduodenoscopies with normal gastric and duodenal biopsies findings and a normal colonoscopy were performed. Endoscope capsule showed red spots in the duodenum and ulcerations in the jejunum and proximal ileum covered by fibrin; histological report showed macrophages with positive periodic acid-schiff reaction staining (PAS staining), disgnosing Whipple's disease. Antibiotics were initiated. The patient is currently in the second phase of treatment without gastrointestinal and joint symptoms.

Conclusion: This is the first case reported in Colombia. It is a rare entity and difficult to diagnose reason why it is important to continue with clinical investigations to give more clarity about the onset and appropriate diagnose to avoid the delay in treatment of this entity.

Keywords: Antibiotics; Capsule endoscopes; Case report; Periodic acid-Schiff reaction; Tropheryma; Whipple disease.

Fig. 1

Endoscope capsule findings: a Shows red spots in the duodenum (indicated by the black arrow). (b-c) Shows multiple ulcerations in the jejunum and proximal ileum covered by fibrin (indicated by the black arrows)

Fig. 2

Enteroscopy: Showing an atrophic mucous throughout the path of the small intestine next to the ileocecal valve. Small non-aphtoid ulcers (indicated by the white arrow)