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

Kathleen Weigt (1) , Alexandra Wiessner (2) , Annette Moter (2) , Florence Fenollar (3, 4) , Didier Raoult (5, 4) , Kristina Allers (1) , Thomas Schneider (1)

1 Charité - UniversitätsMedizin = Charité - University Hospital [Berlin]
2 German Heart Institute Berlin
3 VITROME - Vecteurs - Infections tropicales et méditerranéennes
4 IHU Marseille - Institut Hospitalier Universitaire Méditerranée Infection
5 MEPHI - Microbes évolution phylogénie et infections

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.

Domains: Life Sciences [q-bio]; Microbiology and Parasitology; Bacteriology; Life Sciences [q-bio]; Human health and pathology; Infectious diseases

Kathleen Weigt, Alexandra Wiessner, Annette Moter, Florence Fenollar, Didier Raoult, et al.. Whipple's Disease: Diagnostic Value of rpoB Gene PCR from Peripheral Blood Mononuclear Cells.. Molecular Diagnosis and Therapy, 2018, 22 (4), pp.459-469. ⟨10.1007/s40291-018-0339-7⟩. ⟨hal-02094488⟩