Whipple's Disease: Diagnostic Value of rpoB Gene PCR from Peripheral Blood Mononuclear Cells

Mol Diagn Ther. 2018 Aug;22(4):459-469. doi: 10.1007/s40291-018-0339-7.


Introduction: 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.

Objective: Our objective was to evaluate additional diagnostic possibilities for WD.

Methods: 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.

Results: 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.

Conclusion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Bacterial Proteins / genetics*
  • Bacterial Proteins / metabolism
  • Biomarkers
  • Cell Separation
  • Female
  • Humans
  • Immunohistochemistry
  • Immunophenotyping
  • Leukocytes, Mononuclear / metabolism
  • Leukocytes, Mononuclear / microbiology*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction*
  • RNA, Ribosomal, 16S / genetics
  • Sensitivity and Specificity
  • Tropheryma / genetics*
  • Whipple Disease / diagnosis*
  • Whipple Disease / microbiology*


  • Bacterial Proteins
  • Biomarkers
  • RNA, Ribosomal, 16S