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Erdheim-Chester disease

Etiology: likely a primary macrophage malignancy Epidemiology: 1) average age 53 (range 21-76) 2) M:F ratio 1:1 3) world-wide 600-700 cases/year Pathology: 1) retro-orbital masses 2) fibrosis 3) xanthogranulomas a) predilection for long bones b) plasma cells c) giant cells d) scattered lymphocytes e) large foamy macrophages 4) retroperitoneal fibrosis 5) fibroinflammatory tissue surrounding the infrarenal aorta may result in renal failure [2] 6) diffuse interstitial pneumonia 7) can affect CNS - > diabetes insipidus Genetics: - BRAF V600E mutations (50%) [2,3] Clinical manifestations: 1) 42% asymptomatic 2) proptosis 3) blurry vision 5) fatigue (case report) [2] 6) weight loss (case report) [2] 7) pericarditis (case report) [2] 8) renal failure (case report) [2] 9) night sweats (case report) [2] 10) bone pain, long bones 11) cognitive impairment, depression (case report) [2] Laboratory: 1) biopsy, including bone marrow biopsy 2) CD68 staining for macrophages 3) BRAF V600E mutation Radiology: 1) abdominal CT 2) MRI neuroimaging - retro-orbital masses 3) radiograph of long bones - bilateral osteosclerosis of metaphysis & diaphysis of long bones 4) bone scintigraphy - characteristic pattern of uptake Differential diagnosis: 1) Langerhans histiocytosis 2) necrobiotic xanthogranuloma 3) xanthoma disseminatum 4) malignant histiocytosis 5) Rosai-Dorfman disease 6) IgG4-related disease [2] Management: 1) interferon alfa - generally 1st line - may exacerbate fatigue, depression 2) anakinra if interferon alfa not advisable - beneficial for depression, fatigue (case report) [2] 3) vemurafenib (Zelboraf) for BRAF V600E mutation [2,3] - use in conjunction with anakinra if depression, fatigue an issue (case report) [2] 4) treat pain 5) prognosis: poor once disease affects lungs

General

histiocytosis

References

  1. UCLA Department of Pathology, Lecture series, Jan 7, 2002
  2. Houston BA, Miller PE, Rooper LM, Scheel PJ Jr, Gelber AC CLINICAL PROBLEM-SOLVING. From Dancing to Debilitated. N Engl J Med. 2016 Feb 4;374(5):470-7 PMID: 26840137 http://www.nejm.org/doi/full/10.1056/NEJMcps1311794
  3. Bankhead C, First-Ever FDA Approval for Erdheim-Chester Disease - Vemurafenib okayed for BRAF-positive disease. MedPage Today. November 06, 2017 https://www.medpagetoday.com/publichealthpolicy/fdageneral/69079