Whipple's disease: the great masquerader—a high level of suspicion is the key to diagnosis

Abstract

Background Whipple's disease is a chronic infectious disease that primarily affects the small intestine, but several organs can simultaneously be involved. The disease is caused by a gram-positive bacterium called Tropheryma whipplei. The disease is difficult to suspect because it is rare with unspecific and long-term symptoms; it can be lethal if not properly treated. Case presentation We here present three patients who presented with a plethora of symptoms, mainly long-standing seronegative arthritis and gastrointestinal symptoms in the form of diarrhea with blood, weight loss, fever, and lymphadenopathy. They were after extensive investigations diagnosed with Whipple's disease, in two of them as long as 8 years after the first occurrence of joint manifestations. The diagnosis was made by PCR targeting the T. whipplei 16S rRNA gene from small bowel specimen in all three patients, and, besides from histopathologic findings from the duodenum and distal ileum in one and mesenteric lymph nodes in another patient. Conclusions This report aims to raise awareness of a very rare disease that presents with a combination of symptoms mimicking other and significantly more common diseases.

Whipple’s Disease: An Elusive Diagnosis of a Multisystem Presentation

“…Commonly there is a long prodromal phase with non-specific symptoms, usually joint discomfort. 5 Classic Whipple's disease is typified by arthralgias or arthritis, diarrhoea with malabsorption and weight loss [6].Fever and abdominal pain may be present, and other common features include neurological symptoms, elevated inflammatory markers, and anaemia [7].…”

Maladie de Whipple : généralités et manifestations articulaires

“…Les principaux diagnostics différentiels devant les manifestations articulaires sont la polyarthrite rhumatoïde, le rhumatisme psoriasique et les spondylarthropathies [19,20].…”

The Role of the Gluten-Free Diet in the Management of Seronegative Enteropathy

“…It is worth mentioning that subepithelial collagen deposition may be observed in rare cases, and this may be a consequence of another disease, such as medication-related enteropathy or CD [49]. In addition to the rarely observed atrophy of the intestinal villi, Whipple's disease is also characterised by PAS-positive macrophagic infiltration of the lamina propria, which also represents the diagnostic cornerstone of the disease [50].…”

“…A history of recurrent opportunistic infections often associated with weight loss and night sweats in patients with SNVA should prompt a workup for HIV-enteropathy [48]. Alternatively, intermittent watery diarrhoea caused by the Gram-positive bacterium Tropheryma whipplei, in a patient with long-standing seronegative arthritis, weight loss, fever, and lymphadenopathy is characteristic of late-course Whipple's disease [50].…”