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Background: Whipple disease is a chronic, multisystem disorder associated with infection with Tropheryma whippelii, an organism that has not yet been grown on artificial media. In some cases, the diagnosis of Whipple disease is uncertain if it is based on histology alone. Although anti-biotic regimens of various durations have been used, the disease recurs in about one third of cases. No test for cure is available. Objective: To develop a test that is more sensitive and specific than histologic examination to diagnose Whipple disease and monitor the effects of antibiotic therapy. Design: Retrospective, laboratory-based evaluations of stored tissue specimens. Patients: 30 patients with clinically diagnosed, histologically confirmed Whipple disease and 8 patients in whom Whipple disease was clinically suspected but who did not have definitive histologic evidence. Measurements: Pretreatment and post-treatment biopsy specimens of the small bowel and lymph node were tested by polymerase chain reaction for the presence of T. whippeli DNA. Results: Results on PCR were positive in 29 of the 30 specimens from patients with histologically confirmed disease (sensitivity, 96.6%; specificity, 100%) and in 7 of the 8 specimens from patients in whom disease was clinically suspected. Small-bowel biopsy specimens were obtained after treatment from 17 patients (median duration of follow-up, 119 months); specimens from 12 of these patients had positive results on PCR. When these cases were correlated with therapeutic outcome, it was found that 7 of the 12 patients had clinical relapse during subsequent follow-up or had never responded to treatment (positive predictive value, 58% [95% CI, 28% to 85%]). In contrast, none of the 5 patients whose post-treatment biopsy specimens had negative results on PCR had relapse (negative predictive value, 100% [CI, 48% to 100%]; P = 0.044). No correlation was found between post-treatment histology and clinical outcome (P [is greater than] 0.2). Conclusions: Polymerase chain reaction is highly sensitive and specific when used to confirm the diagnosis of Whipple disease, to identify inconclusive and suspicious cases, and to monitor response to therapy. A negative result on PCR may predict a low likelihood of clinical relapse; a positive test result that remains positive despite therapy may be associated with a poor clinical outcome. Histopathologic evaluation of post-treatment specimens does not predict clinical cure or relapse., The polymerase chain reaction (PCR) may be effective in diagnosing Whipple disease and in monitoring the effectiveness of treatment. Whipple disease is caused by infection with the bacterium Tropheryma whippelii, which cannot be cultured. For this reason, the disease is hard to diagnose. PCR was used on lymph and bowel biopsy samples from 30 patients with confirmed Whipple disease and 8 patients with suspected Whipple disease. The test was positive in over 90% of both groups. Following antibiotic treatment, a positive test also reliably predicted which patients would relapse.

We describe 2 patients with a diagnosis of Whipple disease in whom the usual antibiotic therapy failed. A polymerase chain reaction--based test was used to identify the recently described Whipple bacillus, Tropheryma whippelii. In one case, the diagnosis was confirmed, whereas in the second case, which had been histologically diagnosed as Whipple disease of the brain, the process was identified as a monocyte-derived histiocytosis. In conclusion, Whipple disease can be distinguished from other diseases with similar histological features with the use of a polymerase chain reaction--based test. Arch Intern Med. 1998; 158:801-803

It appears possible to identify before death and successfully treat patients with Whipple disease. Most patients with Whipple disease are not identified until after death. Doctors initially used heart scans, magnetic resonance images, computed tomography, and laboratory test results to identify the source of characteristic signs of congestive heart failure and abdominal complications in a 44-year-old woman. Examination of a heart tissue sample with an electron microscope revealed the bacteria responsible for Whipple disease. Treatment with trimethoprim-sulfamethoxazole and a pacemaker was successful.

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.amjmed.2010.04.030 Byline: Sophie Besnard (a), Anne Cady (b), Erwan Flecher (c), Fabien Fily (a), Matthieu Revest (a), Cedric Arvieux (a), Pierre-Yves Donnio (b), Christian Michelet (a), Pierre Tattevin (a) Keywords: Central nervous system; Infective endocarditis; 16S rRNA; Tropheryma whipplei Abstract: Whipple's endocarditis is an uncommon disease, with approximately 100 cases reported to date. Case series suggest that Whipple's endocarditis usually presents without extracardiac manifestations of Whipple's disease. Author Affiliation: (a) Infectious Diseases and Intensive Care Unit, Pontchaillou University Hospital, Rennes, France (b) Microbiology, Pontchaillou University Hospital, Rennes, France (c) Cardiothoracic Surgery, Pontchaillou University Hospital, Rennes, France Article Note: (footnote) Funding: None., Conflict of Interest: None of the authors have any conflicts of interest associated with the work presented in this manuscript., Authorship: All authors had access to the data and played a role in writing this manuscript.

Background: Cardiac manifestations of Whipple disease are rarely diagnosed before death. Objective: To describe four patients with endocarditis caused by Tropheryma whippelii who did not have overt gastrointestinal disease. Design: Case series. Setting: Five hospitals in eastern Switzerland. Patients: Three men and one woman undergoing replacement of insufficient heart valves. Measurements: Histologic characteristics of heart valves and intestinal biopsy; broad-range and specific polymerase chain reaction for T. whippelii. Results: Tropheryma whippelii was found in the heart valves (three aortic valves and one mitral valve) of four patients with culture-negative endocarditis necessitating valve replacement. All patients had arthralgia for different lengths of time. Only one patient had mild gastrointestinal symptoms. Histologic characteristics of intestinal mucosa were normal in all patients, and polymerase chain reaction on intestinal biopsy was positive for T. whippelii in only one patient, who did not have diarrhea. In all patients, arthralgia resolved promptly after institution of antibiotic therapy. Disease did not recur in any patient after prolonged antibiotic therapy with cotrimoxazole. Conclusion: In patients with culture-negative endocarditis, the absence of clinical, microscopic, or microbiological evidence of gastrointestinal disease did not rule out T. whippelii., Whipple's disease, a gastrointestinal disease, may not be detected in patients with endocarditis, and the absence of clinical, microscopic, or microbiological evidence of gastrointestinal disease does not rule out T. whippelii, which may be the cause. Cardiac manifestations of Whipple disease are rarely diagnosed before death. In the cases of three men and one woman undergoing replacement of insufficient heart valves due to endocarditis, Tropheryma whippelii was found in the heart valves (three aortic valves and one mitral valve). All patients had arthralgia which resolved promptly with antibiotic therapy. Disease did not recur in any patient after prolonged antibiotic therapy with cotrimoxazole.

Q1: What is the diagnosis in this case? The diagnosis is Whipple's disease. This is a rare multisystem disorder characterised by weight loss, diarrhoea, abdominal pain, arthralgia and lymphadenopathy, though [...]

Many authors emphasise the diagnostic difficulties and point out the multifaceted nature of Whipple's disease. (1 2) Joint symptoms are present in 90% of all cases and may precede other [...]