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Published on: January 17, 2018
[The rich diversity of Whipple's disease]
M Sluszniak1, I H Tarner2,3, A Thiele4
1Klinik für Rheumatologie, Immunologie und Osteologie, Krankenhaus St. Josef Wuppertal, Bergstr. 6-12, 42105, Wuppertal, Deutschland. Marta.Sluszniak@cellitinnen.de.
Abstract:
Whipple's disease (WD) is a rare, chronic multiorgan disease which can caused by Tropheryma whipplei, a ubiquitous gram positive bacterium. Detection of T. whipplei is mostly performed histologically using periodic acid-Schiff (PAS) staining in affected tissues to visualize characteristic PAS-positive macrophages and by the polymerase chain reaction (PCR). Clinically, WD is often characterized by gastrointestinal symptoms (diarrhea, colic-like abdominal pain and weight loss). Arthritis is a common presentation of WS, often leading to a misdiagnosis of seronegative rheumatoid arthritis and as a consequence to immunosuppressive therapy. The clinical presentation of WD is highly polymorphic affecting different organ systems (e. g. cardiac or neurological manifestation) and making an appropriate clinical diagnosis and even the diagnostic process itself difficult. This article reports on three cases presenting with completely different leading symptoms (initially misdiagnosed as seronegative rheumatoid arthritis, spondyloarthritis and adult onset of Still's disease, respectively) that illustrate the rich diversity of WD. The cases were chosen to draw attention to the fact that although WD is mainly associated with the field of gastroenterology and gastrointestinal (GI) involvement is common, it may appear without GI symptoms. In cases of a clinical suspicion of WD, diagnostic efforts should be made to detect the bacterium in the affected organ. The German S2k guidelines on GI infections and WD published in January 2015 summarized the current state of the art for WD. The currently recommended primary treatment is antibiotics that can infiltrate the cerebrospinal fluid, e. g. ceftriaxone, followed by cotrimoxazole, which should be maintained over several months.
Insights
Whipple's disease (WD), caused by Tropheryma whipplei, presents diverse symptoms beyond gastrointestinal issues, often mimicking other conditions. Early detection via histology or PCR in affected organs is crucial for timely antibiotic treatment.
Area of Science:
- Infectious Diseases
- Rheumatology
- Gastroenterology
Background:
- Whipple's disease (WD) is a rare, chronic, multiorgan bacterial infection caused by Tropheryma whipplei.
- Clinical presentation is highly polymorphic, frequently involving gastrointestinal symptoms but also presenting with arthritis, cardiac, or neurological manifestations.
- Misdiagnosis is common, particularly as seronegative rheumatoid arthritis, leading to inappropriate immunosuppressive therapy.
Purpose of the Study:
- To illustrate the diverse clinical presentations of Whipple's disease.
- To highlight the importance of considering WD even without gastrointestinal symptoms.
- To emphasize the need for direct detection of Tropheryma whipplei in affected organs.
Main Methods:
- Histological examination using periodic acid-Schiff (PAS) staining to identify PAS-positive macrophages.
- Polymerase chain reaction (PCR) for Tropheryma whipplei detection.
- Case report analysis of three patients with distinct initial symptoms.
Main Results:
- The three reported cases presented with leading symptoms mimicking seronegative rheumatoid arthritis, spondyloarthritis, and adult-onset Still's disease.
- These cases underscore that Whipple's disease can manifest without typical gastrointestinal involvement.
- Diagnostic challenges arise due to the varied clinical spectrum.
Conclusions:
- Whipple's disease requires a high index of suspicion, especially when symptoms are atypical or mimic other rheumatological conditions.
- Direct detection of Tropheryma whipplei in affected tissues is essential for accurate diagnosis.
- Recommended treatment involves antibiotics like ceftriaxone followed by cotrimoxazole for several months.
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