JRSM >
Volume 98, Number 4 >
Pp. 165-166
1 Department of Medicine, Luton and Dunstable NHS Trust, Lewsey Road, Luton LU4
0DZ, UK
2 Department of Radiology, Luton and Dunstable NHS Trust, Lewsey Road, Luton LU4
0DZ, UK
Correspondence to: Dr Malcolm Stodell E-mail: malcolm.stodell{at}ldh-tr.anglox.nhs.uk
In rare instances of renal failure a clue to the underlying disease can be had from plain skeletal radiographs.
CASE HISTORY
A man of 65 was referred after five months of lethargy and poor appetite, with loss of 12 kg in weight. He had a history of hypertension and glaucoma and for several years had been taking quinapril and atenolol and using latanoprost eye drops. On clinical examination the only noteworthy finding was pallor. Haemoglobin was 8.7 g/dL and MCV 72.8 fL, erythrocyte sedimentation rate 93 mm/h, creatinine 205 µmol/L (having been 117 µmol/L 2 years previously).
On the chest X-ray the mediastinal contour was normal and the lungs were clear but unusual symmetrical sclerotic changes were noted in the humeral metaphyses (Figure 1). Bone scintigraphy revealed symmetrically increased uptake predominantly in the long bones, affecting the metaphyses and adjacent diaphyses, with sparing of the epiphyses especially within the distal femora and proximal humeri (Figure 2). On plain films a coarsening of bone texture correlated with the scintigraphic uptake. This strongly suggested a diagnosis of Erdheim-Chester disease, and CT of the abdomen reinforced this impression, revealing stranding of retroperitoneal soft tissues, especially in the perinephric fat, causing mild hydronephrosis (Figure 3). Because this combination of findings was so typical we did not seek biopsy confirmation. He was started on prednisolone and nine months later, taking 5 mg daily, he was feeling well, with serum creatinine 167 µmol/L and creatinine clearance 29 mL/min.
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COMMENT
Erdheim-Chester disease is a histiocytosis characterized by diffuse infiltration of the affected organs by lipid-laden histiocytes and Touton-type giant cells, immunohistochemically different from Langerhans-cell histiocytosis.1 Radiologically, the most specific finding is bilateral and symmetrical cortical osteosclerosis affecting mainly the metaphyseal and diaphyseal regions of the long bones with sparing of the epiphyses.2
Fewer than a hundred cases of Erdheim-Chester disease have been reported.3 Average age at presentation is around 53 years but the youngest patient was 7. The condition can affect not only the bones and retroperitoneum, as in this case, but also the hypothalamic/pituitary axis (leading to diabetes insipidus), the pericardium, the lungs and the skin (xanthomas).3–5 The most common presenting complaint is bone pain along with general symptoms such as fever, weight loss and weakness.4 Hydronephrosis is due to infiltration of retroperitoneal fat.7
The prognosis depends largely on the extent and distribution of extraosseous disease. Systemic corticosteroids, chemotherapy and radiation treatment have all been used but formal trials are lacking.
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  B. Rhodes and A. S M Jawad Erdheim-Chester disease J R Soc Med, June 1, 2005; 98(6): 296 - 296. [Full Text] [PDF]
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