Clinical Observation |

Diagnostic Utility of the Polymerase Chain Reaction in 2 Cases of Suspected Whipple Disease

Kjetil Taskén, MD, PhD; Tom Schulz, MD, PhD; Kjell Elgjo, MD, PhD; Kari Skullerud, MD, PhD; David Relman, MD; Oddbjørn Brubakk, MD, PhD
Arch Intern Med. 1998;158(7):801-803. doi:10.1001/archinte.158.7.801.
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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.

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Polymerase chain reaction (PCR) analysis of tissues from cases 1 and 2. Paraffin-embedded tissues from both patients that demonstrated histological characteristics of Whipple disease were analyzed for the presence of a 284–base pair fragment of the Tropheryma whippelii 16S rDNA gene by PCR using specific oligonucleotide primers (pW3FE and pW2RB), as described elsewhere.6 After extraction of paraffin, proteinase K treatment, and precipitation of DNA, PCR analyses and polyacrylamide gel electrophoresis were performed. The DNA molecular weight markers in lanes 1 and 8 are as follows: lane 1, 123–base pair ladder (Life Technologies Inc); lane 8, 1-kilobase ladder (Life Technologies Inc). The templates in lanes 2 through 7 are as follows: lane 2, normal biopsy specimen from the small intestine of an unrelated patient; lane 3, normal brain tissue from a different, unrelated patient; lane 4, tissue from the small intestine in case 1; lane 5, computed tomography–assisted biopsy specimen from the brain in case 2; lane 6, biopsy specimen from the small intestine in case 2; and lane 7, recombinant plasmid containing the 16S rDNA gene for Whipple disease. The numbers on the right and left of the figure represent base pairs.

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