title: Gastrointestinal diagnosis of classical Whipple disease: clinical, endoscopic, and histopathologic features in 191 patients.
abstract: Classic Whipple disease (CWD) is a systemic infection caused by Tropheryma whipplei. Different diagnostic tools have been developed over the last decades: periodic acid-Schiff (PAS) staining, T whipplei-specific polymerase chain reaction (PCR), and T whipplei-specific immunohistochemistry (IHC). Despite all these advances, CWD is still difficult to diagnose because of a variety of clinical symptoms and possibly a long time span between first unspecific symptoms and the full-blown clinical picture of the disease. Herein, we report an observational cohort study summarizing epidemiologic data, clinical manifestations, and diagnostic parameters of 191 patients with CWD collected at our institution. Gastrointestinal manifestations are the most characteristic symptoms of CWD affecting 76% of the cohort. Although the small bowel was macroscopically conspicuous in only 27% of cases, 173 (91%) patients presented with characteristic histological changes in small bowel biopsies (in 2 patients, these changes were only seen within the ileum). However, 18 patients displayed normal small bowel histology without typical PAS staining. In 9 of these patients, alternative test were positive from their duodenal specimens (ie, T whipplei-specific PCR and/or IHC). Thus, in 182 patients (95%) a diagnostic hint toward CWD was obtained from small bowel biopsies. Only 9 patients (5%) were diagnosed solely based on positive T whipplei-specific PCR and/or IHC of extraintestinal fluids (eg, cerebrospinal fluid, synovial fluid) or extraintestinal tissue (eg, lymph node, synovial tissue), respectively. Thus, despite efforts to diagnose CWD from alternative specimens, gastroscopy with duodenal biopsy and subsequent histological and molecular-biological examination is the most reliable diagnostic tool for CWD.
authors.affiliation: From the Charité - Campus Benjamin Franklin (UG, VM, GOffenmüller, GOelkers, TS), Medical Clinic I Gastroenterology, Infectious Diseases, Rheumatology; Vivantes Auguste-Viktoria-Klinikum (UG), Klinik für Innere Medizin, Infektiologie und Gastroenterologie; Evangelisches Krankenhaus Königin Elisabeth (WH), Abteilung Innere Medizin/Gastroeneterologie, Infektiologie und Nephrologie; Deutsches Herzzentrum Berlin (AM), Biofilmzentrum; and PathoTres (CL), Berlin, Germany.
authors.forename: Ute
authors.initials: U
authors.lastname: Günther
authors.forename: Verena
authors.initials: V
authors.lastname: Moos
authors.forename: Gabriel
authors.initials: G
authors.lastname: Offenmüller
authors.forename: Gerrit
authors.initials: G
authors.lastname: Oelkers
authors.forename: Walther
authors.initials: W
authors.lastname: Heise
authors.forename: Annette
authors.initials: A
authors.lastname: Moter
authors.forename: Christoph
authors.initials: C
authors.lastname: Loddenkemper
authors.forename: Thomas
authors.initials: T
authors.lastname: Schneider
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002555:Cerebrospinal Fluid / Q000382:microbiology; D015331:Cohort Studies; D003937:Diagnosis, Differential; D005260:Female; D005767:Gastrointestinal Diseases / Q000503:physiopathology; D005773:Gastroscopy; D006403:Hematologic Tests; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D054851:Tropheryma; D008061:Whipple Disease / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000503:physiopathology