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Treatment of Erdheim-Chester disease with cladribine: a rational approach
  1. C Myra1,
  2. L Sloper1,
  3. P J Tighe1,2,
  4. R S McIntosh2,3,
  5. S E Stevens2,
  6. R H S Gregson4,
  7. M Sokal5,
  8. A P Haynes6,
  9. R J Powell7
  1. 1Division of Ophthalmology, University of Nottingham School of Clinical Laboratory Sciences, Queen’s Medical Centre, Nottingham NG7 2UH, UK
  2. 2Division of Immunology, University of Nottingham School of Clinical Laboratory Sciences, Queen’s Medical Centre, Nottingham NG7 2UH, UK
  3. 3Division of Ophthalmology, University of Nottingham School of Clinical Laboratory Sciences, Queen’s Medical Centre, Nottingham NG7 2UH, UK
  4. 4Department of Diagnostic Imaging, Queen’s Medical Centre, Nottingham NG7 2UH, UK
  5. 5Department of Oncology, City Hospital, Nottingham NG5 1PB, UK
  6. 6Department of Haematology, City Hospital, Nottingham NG5 1PB, UK
  7. 7Clinical Immunology Unit, Queen’s Medical Centre, Nottingham NG7 2UH, UK
  1. Correspondence to: C Myra L Sloper Neuro-Ophthalmology Department, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; myra.sloperdial.pipex.com

https://doi.org/10.1136/bjo.2003.035584

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    Erdheim-Chester disease is a rare, life threatening lipoid granulomatosis1 with fewer than 100 cases described in the world literature. The disease typically affects the long bones and symmetrical sclerosis of the diaphyseal and metaphyseal regions is pathognomonic. Extraskeletal manifestations may affect the lungs, pericardium, aorta, retroperitoneum, skin, and orbits and diabetes insipidus occurs in approximately 30% of cases. Erdheim-Chester disease is characterised microscopically by an infiltrate of lipid laden foamy macrophages (histiocytes), scattered Touton giant cells, chronic inflammatory cells, and fibrosis. The foamy macrophages can be distinguished from Langerhans cells on the basis of negative results on staining for S-100 protein and CD1a. Treatment of the disease has been on an ad hoc basis and no treatment regimen has been shown to be clearly superior.

    This study documents the clinical findings in a patient with Erdheim–Chester disease, investigates the pathogenesis, and provides a rational basis for effective treatment.

    Case report

    This white man, aged 45, developed aching in his legs, night sweats, lethargy, and impotence in October 1988, for which no cause was found. His night sweats resolved by July 1989 and he was discharged. He presented in November 1990 with reduced vision (6/9) in the left eye, bilateral proptosis of 12 months’ duration, chemosis, ophthalmoplegia, and optic disc oedema. He still had sexual dysfunction and lethargy and now also had leg oedema and thrombocythaemia. At that time his thyroid function was normal, but erythrocyte sedimentation rate (ESR) and C reactive protein (CRP) were moderately elevated. A computed tomography (CT) scan of the orbits showed bilaterally enhancing masses lying predominantly within the muscle cone and encasing both optic nerves. An orbital biopsy in November 1990 showed an inflammatory picture. There was no evidence of vasculitis on muscle biopsy and a clinical diagnosis of orbital pseudotumour was made. He was initially treated …

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