Aims
Whipple's disease is a rare, multi-systemic chronic infectious disease caused by the organism Tropheryma whipplei. It can manifest with a variety of symptoms including gastrointestinal (eg weight loss, diarrhoea and abdominal pain), arthritis, neurological involvement, pyrexia, lymphadenopathy, anaemia/hypoalbuminaemia amongst other multi-system symptoms. We present a case of small bowel malabsorption due to Whipple's disease.
Methods
A 51-year-old gentleman presented to hospital with a 6-month history of diarrhoea, fatigue, asymmetrical arthritis and 11 stone weight loss, but preserved appetite clinical examination demonstrated only abdominal fullness. There were no other symptoms on further history including no history of foreign travel or any other symptoms suggestive of inflamatory bowel disease.
He had a past medical history of hypertension and hypothyrodisim, for which he was on ramipril and levothyroxine.
Blood results showed a microcytic anaemia, lymphopenia, hypoalbuminaemia and low IgM levels. Urgent upper and lower gastrointestinal endoscopy were performed with duodenal, caecal and rectal biopsies taken alongside tissue for polymerase chain reaction (PCR). Computed tomography (CT) of chest/abdomen/pelvis revealed multiple enlarged lymph nodes and subsequently a diagnostic laparoscopy was arranged.
Duodenal and lymph node biopsies were consistent with Whipple's disease. Following diagnosis, microbiology advised a lumbar puncture and transthoracic echocardiogram, to rule out central nervous system involvement and endocarditis respectively. These were normal.
Results
The patient was treated with 2 weeks of intravenous ceftriaxone followed by maintenance therapy of doxycycline and hydroxychloroquine. He has since reported improvements in appetite and weight and is currently being reviewed in outpatient clinic.
The pathogenesis is currently unknown with T whipplei being identified in healthy subjects although there is evidence to suggest a genetic predisposition, most commonly occurring in caucasian, European males. In addition, some studies have suggested a higher incidence with increased sewage exposure.
Diagnosis of Whipple's disease is challenging through varied presentations and its rarity with an annual incidence <1:1,000,000.
Maintenance treatment is continued for at least 1 year, monitored by D2 biopsies and PCR tests, and may be stopped after PCR tests become negative.
Conclusion
This case highlights that where small bowel malabsorption is suspected, due to symptoms such as diarrhoea or unexplained weight loss, rarer causes such as Whipple's disease, amyloidosis and small bowel lymphoma do need to be considered and upper gastrointestinal endoscopy with duodenal biopsies can be a crucial investigation in determining a diagnosis, especially if initial lower gastrointestinal endoscopy has not revealed a diagnosis.
- © Royal College of Physicians 2019. All rights reserved.
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