Erdheim-Chester disease (ECD) is a rare non-Langerhan's cell, non-familial granulomatosis, with widespread manifestations and of highly variable severity 1.
Erdheim-Chester disease is a rare, non-inherited disease of middle age with a slight male predominance 6.
Patients may present with a focal symptoms through to multi-system involvement and failure 5. The most common presenting symptom is bone pain. Patients may also present with focal neurological signs, exophthalmos, retroperitoneal fibrosis, diabetes insipidus, and dyspnoea due to extra-skeletal involvement of these systems.
Erdheim-Chester disease is a systemic lipogranulomatous disorder with infiltration by lipid-laden histiocytes (foamy macrophages), Touton giant cells and a variable amount of background fibrosis 2. In contrast to histiocytosis X no S-100 nor CD1 are detected 1.
Musculoskeletal involvement is most common, with multifocal extraskeletal involvement seen in 30-50% of patients 1,2.
- bilateral, symmetric metaphyseal and diaphyseal sclerosis 1,2
- increased uptake on Tc-MDP bone scan 7
- cortical thickening
- kidneys and retroperitoeum
- often involved
- usually asymptomatic 1
- IVC and pelvic ureters are typically spared, which are useful cross-sectional imaging findings for differentiation of retroperitoneal Erdheim-Chester disease from retroperitoneal fibrosis.8
- retro-orbital tissue
- retrograde extension along the optic nerve to the hypothalamus may explain the distribution of brain involvement 4
- heart, pericardium and aorta 2
Intracranial involvement of the dura, brain and pituitary are rare 3.
- dural accumulations, may mimic meningiomas, with enhancing soft tissue masses. T2 signal characteristics are somewhat different, as the accumulations in ECD are hypointense 3
- brain : usually the hypothalamus 3
- pituitary infundibulum : presenting with diabetes insipidus
Treatment and prognosis
Steroids, radiotherapy and chemotherapy have all been used but with little effect, with some patients relentlessly progressing 1. Pulmonary fibrosis and cardiac failure are the most common causes of death 2. Given the small volume of published data, mortality rates are sketchy, but may be as high as 60% 2
Surgical or percutaneous intervention on hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease.
- 1. Verdalles U, Goicoechea M, García de Vinuesa S et-al. Erdheim-Chester disease: a rare cause of renal failure. Nephrol. Dial. Transplant. 2007;22 (6): 1776-7. doi:10.1093/ndt/gfm115 - Pubmed citation
- 2. Myra C, Sloper L, Tighe PJ et-al. Treatment of Erdheim-Chester disease with cladribine: a rational approach. Br J Ophthalmol. 2004;88 (6): 844-7. doi:10.1136/bjo.2003.035584 - Free text at pubmed - Pubmed citation
- 3. Johnson MD, Aulino JP, Jagasia M et-al. Erdheim-chester disease mimicking multiple meningiomas syndrome. AJNR Am J Neuroradiol. 2004;25 (1): 134-7. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 4. Wright RA, Hermann RC, Parisi JE. Neurological manifestations of Erdheim-Chester disease. J. Neurol. Neurosurg. Psychiatr. 1999;66 (1): 72-5. doi:10.1136/jnnp.66.1.72 - Free text at pubmed - Pubmed citation
- 5. Fortman BJ, Beall DP. Erdheim-Chester disease of the retroperitoneum: a rare cause of ureteral obstruction. AJR Am J Roentgenol. 2001;176 (5): 1330-1. AJR Am J Roentgenol (full text) - Pubmed citation
- 6. Shamburek RD, Brewer HB, Gochuico BR. Erdheim-Chester disease: a rare multisystem histiocytic disorder associated with interstitial lung disease. Am. J. Med. Sci. 2001;321 (1): 66-75. Am. J. Med. Sci. (link) - Pubmed citation
- 7. Zanglis A, Valsamaki P, Fountos G. Erdheim-Chester disease: symmetric uptake in the (99m)Tc-MDP bone scan. Hell J Nucl Med. 11 (3): 164-7. Pubmed citation
- 8. Haaga JR, Boll D. CT and MRI of the whole body. Mosby. (2009) ISBN:0323053750. Read it at Google Books - Find it at Amazon
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Polyostotic Sclerosing Histiocytosis||✓|
|Non-Langerhans Cell Histiocytosis||✓|