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Whipple disease is a rare multisystemic infectious process caused by Tropheryma whipplei. Classical clinical manifestations include chronic diarrhea, malabsorption, weight loss, and arthralgias. Cases of endocarditis and isolated involvement of the central nervous system have also been reported. Isolated vascular complications are not common with this disease. Vascular manifestations are mainly described as systemic embolization from underlying endocarditis. We report two consecutive cases of mycotic pseudoaneurysms resulting from Whipple disease treated with successful vascular reconstruction using autologous vein grafting.

Whipple's disease is a rare chronic infectious disease, caused by Tropheryma whipplei. The disease can be challenging to diagnose due to the variable clinical manifestations and the nonspecific laboratory and imaging findings. We report the case of a 75-year-old man, complaining of weight loss and arthralgias with an insidious onset. A thoracic, abdominal and pelvic CT was performed, demonstrating features suggestive of Whipple's disease. Although not specific, the imaging findings of fatty attenuation mesenteric and retroperitoneal enlarged lymph nodes are a common finding in Whipple's disease. Esophagogastroduodenoscopy with duodenal biopsy confirmed the diagnosis through PCR analysis.

Our institution has performed microbiological diagnosis of Tropheryma whipplei since 2001, initially with a PCR targeting 16S rRNA before the development of a quantitative PCR in 2012. Here we report the clinical characteristics of a cohort of patients suffering from Whipple disease (WD) and evaluate the impact of these molecular techniques. Patients with a positive PCR for T. whipplei between 2001 and 2016 were retrospectively collected from microbiological databases. Two infectious diseases specialists reviewed their medical records and classified them as definite WD, probable WD or carriage of T. whipplei without disease. A total of 1153 samples were tested for T. whipplei; 76 samples taken from 36 patients were positive. Fifteen were considered as presenting a definite WD, seven as a probable WD and 14 as carriers. Median age was 56.4 years (extremes, 6.6-76.1). Median time from symptoms to diagnosis was 3 years (2.5 months to 13.3 years). About 60% were immunosuppressed. The most frequent clinical presentations were joint pain (16/22), weight loss (15/22) and/or digestive tract disorder (15/22); 41% had neurological manifestations, 32% pulmonary involvement and 32% lymphadenopathies. Bacterial load in faeces or saliva were 88 425 copies/mL (IQR 6175-292 725) in definite and probable WD and 311 copies/mL (IQR 253-2090) in carriers, respectively. We observed a 90% PPV above 32 200 copies/mL in faeces. WD is a chronic multisystemic disease with frequent pulmonary involvement. Underlying immunodeficiency is commonly observed leading to more complex clinical presentation. Positive T. whipplei PCR in both stool and saliva has a high positive predictive value. Moreover, patients with WD present higher bacterial load in faeces with a threshold of >32 200 copies/mL predicting ongoing infection., (Copyright © 2021. Published by Elsevier Ltd.)

Objectives: A kidney transplant recipient with recurrent pleuritis underwent an open lung biopsy, the results of which revealed multiple nodular infiltrates. Grocott and periodic acid-Schiff staining were positive. Fungal and Tropheryma whipplei PCR were, however, negative. Further identification was needed., Methods: Formalin-fixed, paraffin-embedded (FFPE) extraction was performed using an FFPE extraction kit. T. whipplei was searched for using a real-time PCR targeting the noncoding repeat specific for T. whipplei. Identification of the bacteria in the extract was done using 16S rDNA and 23S rDNA sequencing and BLAST analysis. Internal transcribed spacer PCR was used for fungal DNA identification., Results: The FFPE extract was negative for fungi and T. whipplei. 16S rDNA sequence analysis of a 1375 bp fragment gave T. whipplei as the best match with 26 mismatches, resulting in only 98% agreement. Sequence analysis of the 23S rDNA gene again gave T. whipplei as the best match, but with only 91% agreement. A pan-Tropheryma 16S rDNA real-time PCR was developed, and both the biopsy sample and a respiratory sample of the patient were strongly positive. The patient received antimicrobial treatment targeting T. whipplei with good clinical outcome., Conclusions: 16S and 23S rDNA sequencing gave T. whipplei as the best hit, although with limited agreement. These findings suggest that a novel Tropheryma species that lacks the noncoding repeat, most frequently used for molecular detection of Whipple disease, might be the cause of the pulmonary disease. Adaptation of current PCR protocols is warranted in order to detect all Tropheryma species., (Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.)

Whipple's disease is a rare, chronic, systemic infectious disorder with prominent intestinal manifestations. It presents with weight loss, arthralgia, diarrhea, and abdominal pain. There are different entities of infection or carriage, respectively, classical Whipple's disease, localized WD, and Isolated Neurological WD. The disease is commonly diagnosed by biopsy of lymph node or small-bowel. Histological detection within duodenal biopsies with "Periodic acid Schiff" (PAS) staining still is first choice for the diagnosis of classical Whipple's disease. PCR or immunohistochemistry can identify the agent more specifically, and DNA sequencing for Tropheryma whipplei on lymphocytes from blood and cerebrospinal fluid from PCR-positive specimens, is essential. Cell-mediated immunity in active and inactive Whipple's disease has subtle defects that might predispose some individuals to symptomatic infection with this bacillus. Successful treatment can be achieved in most of the cases by antimicrobial therapy. WD can be progressive lethal. Immune reconstitution inflammatory syndrome (IRIS) might complicate the course of treatment and in worst case end fatal., (Copyright © 2017. Published by Elsevier B.V.)