Whipple’s Disease: Diagnostic Value of rpoB Gene PCR from Peripheral Blood Mononuclear Cells
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Chronic infection with Tropheryma whipplei, known as Whipple’s disease (WD), classically affects the gastrointestinal tract, but any organ system may be affected, and isolated manifestations occur. Reliable diagnosis based on a combination of periodic acid–Schiff (PAS) staining, T. whipplei-specific immunohistochemistry (IHC), and polymerase chain reaction (PCR) from duodenal biopsies may be challenging in cases without classical gastrointestinal infection, so the need for additional diagnostic materials is urgent.
Our objective was to evaluate additional diagnostic possibilities for WD.
We analyzed samples from 20 patients with WD and 18 control subjects in a prospective observational pilot study. In addition to WD diagnosis by PAS staining, T. whipplei-specific IHC and PCR of duodenal or extra intestinal tissues, whole EDTA blood, peripheral blood mononuclear cells (PBMCs) and PBMC fractions enriched with or depleted of cluster of differentiation (CD)-14+ cells were examined using T. whipplei rpoB gene PCR.
Tropheryma whipplei DNA was detected in 35 of 60 (58.3%) preparations from 16 of 20 patients with WD, most of whom lacked gastrointestinal signs and characteristic PAS-positive duodenal macrophages.
This study provides evidence for the potential suitability of blood, particularly PBMCs, as material to assist in the diagnosis of WD via rpoB gene real-time PCR. Thus, PCR from blood preparations can be helpful for diagnostic decision making in atypical cases of WD.
Compliance with Ethical Standards
This work was supported by Deutsche Forschungsgemeinschaft SFB633, KFO104, SCHN 616/6-2, European commission QLG1-CT-2002-01049 and Charité doctorate grants. The German Consiliary Laboratory for T. whipplei is supported by the Robert Koch Institute. The funders had no role in the study design, the data collection and interpretation, or the decision to submit the work for publication.
Conflict of interest
KW, AW, AM, FF, DR, KA, TS, and VM have no conflicts of interest.
Informed consent was obtained from all individual participants included in the study (ethical commission of the Charité; EA4/122/10).
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