Whipple’s Disease as the First Manifestation of Chronic Lymphocytic Leukaemia

Whipple’s disease is a rare multisystemic infectious disease that can mimic lymphoproliferative disorders and must be considered in the differential diagnosis of febrile syndromes. The authors describe the case of a 55-year-old man who presented to the Emergency Department with dyspnoea and abdominal pain. He had a 2-month history of fever, night sweats, asthenia and unintentional weight loss. Upon clinical examination he had bilateral inguinal lymphadenopathy. Blood tests showed iron-deficit anaemia and high C-reactive protein. Abdominal ultrasound showed mesenteric and iliac adenopathies and hepatosplenomegaly. The patient was admitted to the Internal Medicine department for additional testing. Flow cytometry analysis of peripheral blood showed CD5-positive monoclonal B-cell expansion. Excisional biopsy of a retroperitoneal adenopathy guided by computed tomography showed periodic acid–Schiff-positive bacilli inside the macrophages, further identified as Tropheryma whipplei through polymerase chain reaction. Bone marrow biopsy showed a scarce positive CD5 lymphoid population and haematopoietic alterations related to infection. The patient started treatment for T. whipplei with complete symptom resolution. This is the first case describing the simultaneous diagnosis of Whipple’s disease and chronic lymphocytic leukaemia in a patient with constitutional symptoms, fever and lymphadenopathies. LEARNING POINTS: Whipple’s disease can mimic lymphoproliferative disorders and should be considered in the differential diagnosis of lymphadenopathy and fever, even in the absence of gastrointestinal symptoms. Most patients with chronic lymphocytic leukaemia are asymptomatic, but a minority have B symptoms and increased risk of infections. An accurate clinical history and differential diagnosis are fundamental; if the authors had not had a high level of suspicion, this patient could have been diagnosed with just chronic lymphocytic leukaemia and may have died if Whipple’s disease had been left untreated.