Erdheim-Chester disease (ECD) is a rare non-Langerhans cell, non-familial multisystemic granulomatosis, with widespread manifestations and of highly variable severity. The most common presenting symptom is bone pain.
Erdheim-Chester disease is a rare, non-inherited disease of middle age with a slight male predominance 6.
Patients may present with a variety of symptoms, ranging from focal neurological deficits to multi-organ failure 5. The most common presenting symptom is bone pain. Patients may also present with focal neurological signs, exophthalmos, retroperitoneal fibrosis, diabetes insipidus, and dyspnea 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 Langerhans cell histiocytosis (LCH) no S-100 nor CD1 are detected 1, but CD68 is positive 10.
Both ECD and LCH may coexist, and cases of double infiltration have been reported 10.
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
- lung (see: pulmonary manifestations of Erdheim-Chester disease)
kidneys and retroperitoneum
- often involved
- usually asymptomatic 1
- hairy kidney sign: irregular symmetric infiltration of the bilateral perirenal and posterior pararenal spaces 11
- coated aorta sign: periaortic soft tissue 11
- inferior vena cava 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; intraparenchymal masses in ECD appear nonspecific 10
- 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 for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease.
History and etymology
It was first described in 1930 as "lipid granulomatosis" by Jakob Erdheim (1874-1937), an Austrian pathologist, and William Chester, an American pathologist 9.
- 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
- 9. Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis.8 (1): 137. doi:10.1186/1750-1172-8-137 - Free text at pubmed - Pubmed citation
- 10. Drier A, Haroche J, Savatovsky J et-al. Cerebral, facial, and orbital involvement in Erdheim-Chester disease: CT and MR imaging findings. Radiology. 2010;255 (2): 586-94. doi:10.1148/radiol.10090320 - Pubmed citation
- 11. Melissa Matzumura, Javier Arias-Stella, III, James E. Novak. Erdheim-Chester Disease: A Rare Presentation of a Rare Disease. (2016) Journal of Investigative Medicine High Impact Case Reports. 4 (3): 2324709616663233. doi:10.1177/2324709616663233 - Pubmed