Erdheim-Chester disease with early onset atherosclerosis and a pseudo-malignant phase

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Abstract
A 42 year old man presented to the rheumatology department with a two year history of arthralgia of the knees and ankles. Past medical history included myocardial infarctions at the ages of 33 and 40, with coronary artery bypass grafting at age 39. His father had died of myocardial infarction aged 54. The patient was noted to have xanthomata. Examination of his joints was normal. Laboratory tests, including erythrocyte sedimentation rate, red and white blood cell count, glucose, renal, and liver function tests, were normal. Serum cholesterol was raised at 7.8 mmol/l. Radiographs showed no abnormality of the joints, but demonstrated sclerosis of the distal femora and proximal tibia. Computed tomography (fig 1) and magnetic resonance imaging confirmed sclerosis without osteolysis. Biopsy of the left tibia showed sheets of large foamy histiocytes infiltrating the marrow, confirming the diagnosis of Erdheim-Chester disease. One year later, over a few weeks, he developed a painful swelling in the right mid-thigh associated with low grade fever and weight loss. Repeat blood cultures were negative and no material was aspirated. Radiographs showed a more aggressive appearance with erosion of the cortex, and possible malignant change. A second bone biopsy was performed under general anaesthetic. In the early postoperative period he died of bronchopneumonia and respiratory failure.