Erdheim-Chester disease versus multifocal fibrosis and Ormond's disease: a diagnostic dilemma

Bangard, Christoph; Lotz, J.; Rosenthal, H.; Galanski, Michael

doi:10.1016/j.crad.2003.09.023

Cited by 11 publications

(9 citation statements)

References 13 publications

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“…The majority of cases in which retroperitoneal involvement appears are asymptomatic [63]. The differential diagnosis of ECD associated retroperitoneal fibrosis includes idiopathic retroperitoneal fibrosis (also known as Ormonds' disease) and secondary retroperitoneal fibrosis [25,64]. When present, the symptoms are dysuria and abdominal pain.…”

Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: a comprehensive review of the literature

Mazor

Manevich-Mazor

Shoenfeld

2013

Orphanet J Rare Dis

225

309

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Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. The etiology of ECD is unknown yet thought to be associated with an intense TH1 immune response. It may also be associated with the V600E BRAF mutation, as described in as many as half of the patients in recent studies. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen. At present, this obscure ailment embodies numerous challenges to medical science. Given its rarity, it is diagnostically elusive and requires a high level of clinical suspicion. Therapeutically, it is of limited alternatives. Currently, interferon-α is the most extensively studied agent in the treatment of ECD and serves as the first line of treatment. Treatment with other agents is based on anecdotal case reports and on the basis of biological rationale. Nevertheless, cladribine (2CDA), anakinra and vemurafenib are currently advocated as promising second line treatments for patients whose response to interferon-α is unsatisfactory. Overall, the 5 year survival of ECD is 68%. Herein, the authors mustered and brought about a panoramic consolidation of all the relevant facts regarding ECD. This work highlights the different clinical, radiological and pathological manifestations associated with ECD, the differential diagnoses, the various treatment options and the acknowledged science explaining the disease.

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Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: a comprehensive review of the literature

Mazor

Manevich-Mazor

Shoenfeld

2013

Orphanet J Rare Dis

225

309

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“…Enhancement of signal intensity on gadolinium injection may occur during acute episodes 8 and infiltration may be accompanied by ureterohydronephrosis. Distinguishing retroperitoneal infiltration in Erdheim‐Chester disease from retroperitoneal infiltration due to other causes is thus not easy 9 . Fibrosis surrounding the renal hila and the ureters bilaterally without affecting the perivascular and aortic compartment, as observed in our patient, could be a sign of the onset of the disease.…”

Section: Discussionmentioning

confidence: 68%

“…However, a final diagnosis of Erdheim‐Chester disease can only be based on the pathognomonic finding of symmetrical sclerosis of bones on radiography, which is absent in cases of retroperitoneal infiltration due to other causes 9 . If there are no pathognomonic findings on radiography, bone scans may prove helpful in the diagnosis, 10 as shown in our patient.…”

Section: Discussionmentioning

confidence: 76%

Retroperitoneal infiltration as the first sign of Erdheim‐Chester disease

Colin¹,

Ballereau²,

Lambert³

et al. 2008

Int J of Urology

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Abstract:We report a case of an elderly man with bladder cancer, in whom the first manifestation of Erdheim-Chester disease was retroperitoneal infiltration detected during routine follow-up. The disease was diagnosed on the basis of histology and immunochemistry findings (presence of histiocytes) and of imaging findings (plain radiography, computed tomography, magnetic resonance imaging, and bone scintigraphy). The differential diagnosis with respect to other causes of retroperitoneal infiltration is discussed.

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“…It has been suggested that a substantial number of patients diagnosed with Ormond's disease might actually suffer from ECD. 12 To differentiate between ECD and Ormond's disease, X-rays of the long bones in combination with a 99 Tc bone scintigraphy should be performed, as should histologic examinations of biopsy samples from organs involved.…”

Section: Differential Diagnosismentioning

confidence: 99%