European Journal of Case Reports in Internal Medicine
Tropheryma whipplei infection mimicking sarcoidosis with an atypical course: a molecularly confirmed diagnosis without PAS-positive intestinal disease
By Lucia Bohinikova, Marco Seneghini, Michael Benjamin Fischer and 2 others.
Abstract
Introduction
The bacterium Tropheryma whipplei causes Whipple’s disease, a rare chronic infection that can involve virtually any organ, especially in the late phase, and mimic inflammatory or neoplastic conditions. The interval from first symptoms to diagnosis is typically several years.
Case description
A 68-year-old man was referred for pulmonary re-evaluation 2 years after a non-caseating hilar lymph-node granuloma had led to a diagnosis of stage I (nodal) sarcoidosis. His records revealed a 3-year history of lymphadenopathy with persistently elevated C-reactive protein and a two-year history of recurrent fever and fatigue. Corticosteroid therapy for ankle synovitis caused symptomatic worsening, prompting further investigation. Extensive infectious, oncological, rheumatological and tropical-medicine workup was unrevealing. Detailed history-taking revealed a 6 kg weight loss and epigastric discomfort, and a prior short antibiotic course for incipient pneumonia had produced transient improvement, making an atypical infectious aetiology, specifically Whipple’s disease, plausible. An endobronchial ultrasound–guided lymph-node aspirate and subsequently a stool sample were both positive for T. whipplei by quantitative polymerase chain reaction (qPCR), whereas cerebrospinal fluid PCR was negative, establishing systemic disease without central nervous system involvement. Oral doxycycline plus hydroxychloroquine produced fast and sustained clinical and biochemical remission at 1 year. Surveillance duodenal histology was periodic acid–Schiff -negative and structured clinical follow-up was arranged.