Successful Management of Whipple’s Disease in a 46-Year-Old British Woman: A Case Report

TL;DR

A 46-year-old British woman was successfully diagnosed and treated for Whipple's disease, a rare and hard-to-detect infection.

Contribution

This case report highlights the importance of early diagnosis and the use of esophagogastroduodenoscopy with biopsy for Whipple's disease.

Findings

A biopsy confirmed Whipple's disease in a patient with non-specific symptoms.

Diagnostic tools like PCR and PAS staining failed to detect the causative agent in this case.

The case emphasizes the need for ongoing follow-up due to the risk of recurrence.

Abstract

Whipple's disease (WD) is a rare systemic infection, notoriously difficult to diagnose due to the presence of common, ambiguous, or constitutional clinical characteristics. We present the case of a 46-year-old British woman, who presented to the emergency department (ED) of Frimley Park Hospital, United Kingdom, with chief complaints of progressive weight loss, abdominal pain in the right upper quadrant, diarrhea bloating, and melena or rectal bleeding that had been ongoing for five months. Baseline studies were conducted outside of our hospital. The patient's secondary pathology included pulmonary sarcoidosis (PS), pulmonary hypertension (PH), pulmonary artery aneurysm (PAA), hypothyroidism (HT), and learning impairments. After evaluating all of the medical reports, an esophagogastroduodenoscopy (OGD) revealed the presence of oedematous mucosa, and a biopsy from the second portion of the duodenum confirmed the diagnosis of WD. "Tropheryma whipplei" was not detected using polymerase chain reaction (PCR), periodic acid-schiff (PAS), or fungal staining. As a result, early diagnosis should be a top priority for such individuals, with OGD and biopsy serving as the primary diagnostic tool. Furthermore, ongoing follow-up with the patient is required, as recurrence is common and can occur even after a full course of antibiotic treatment. This case report underlines that, due to the constitutional characteristics of the clinical manifestations, decision-making should be based on current clinical features as well as any related secondary diseases, rather than only signs and symptoms.

Figures