From Symptoms to Solution: A Diagnostic Challenge of Whipple’s Disease

TL;DR

This paper presents a case of Whipple’s disease with multiple symptoms and highlights the challenges in diagnosing this rare condition.

Contribution

The case demonstrates the diverse clinical manifestations and diagnostic approach for Whipple’s disease.

Findings

Whipple’s disease can present with non-specific symptoms across multiple organ systems.

PCR and biopsy confirmed the diagnosis in a patient with culture-negative endocarditis.

Early diagnosis and treatment with antibiotics improved patient outcomes.

Abstract

Whipple’s disease is caused by the bacterium Tropheryma whipplei. The classic presentation of this disease consists of arthralgias, weight loss, diarrhea, and abdominal pain. However, Whipple's disease can also have other manifestations across multiple organ systems, ranging from lymphadenopathy to pleuropulmonary disease to endocarditis to skin hyperpigmentation and even CNS involvement. We present the case of a 39-year-old male with multiple organ system manifestations of Whipple’s disease. He presented with a 50-pound unintentional weight loss, early satiety, arthralgias, chronic cough, pleural effusions, and lymphadenopathy on a CT scan. A transesophageal echocardiogram revealed vegetation on multiple valves, consistent with the diagnosis of endocarditis. Blood cultures showed no growth. Several labs were obtained for a complete work-up for culture-negative endocarditis. The serum polymerase chain reaction (PCR) was reported positive for T. whipplei. Gastric antral biopsy and inguinal lymph node biopsy showed periodic acid-Schiff (PAS)-positive macrophages, confirming the diagnosis of Whipple’s disease. The patient was treated with ceftriaxone for a four-week course, followed by Bactrim DS for one year. As was the case with this patient, Whipple’s disease can present a wide array of symptoms across multiple organ systems. It is often difficult to diagnose due to its rarity and broad range of non-specific symptoms. Physicians should maintain a high level of suspicion for this disease and include it in their differential diagnosis. A prompt diagnosis and appropriate treatment will yield better outcomes.

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