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Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: A seven case series

Mazor, RD and Manevich-Mazor, M and Kesler, A and Aizenstein, O and Eshed, I and Jaffe, R and Pessach, Y and Goldberg, I and Sprecher, E and Yaish, I and Gural, A and Ganzel, C and Shoenfeld, Y (2014) Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: A seven case series. BMC Medicine, 12 (1).

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Background: Erdheim-Chester Disease (ECD), a non Langerhans' cell histiocytosis of orphan nature and propensity for multi-systemic presentations, comprises an intricate medical challenge in terms of diagnosis, treatment and complication management. Objectives: The objectives are to report the clinical, radiological and pathological characteristics, as well as cardinal therapeutic approaches to ECD patients and to provide clinical analyses of the medical chronicles of these complex patients. Methods: Patients with biopsy proven ECD were audited by a multi-disciplinary team of specialists who formed a coherent timeline of all the substantial clinical events in the evolution of their patients' illness. Results: Seven patients (five men, two women) were recruited to the study. The median age at presentation was 53 years (range: 39 to 62 years). The median follow-up time was 36 months (range: 1 to 72 months). Notable ECD involvement sites included the skeleton (seven), pituitary gland (seven), retroperitoneum (five), central nervous system (four), skin (four), lungs and pleura (four), orbits (three), heart and great vessels (three) and retinae (one). Prominent signs and symptoms were fever (seven), polyuria and polydipsia (six), ataxia and dysarthria (four), bone pain (four), exophthalmos (three), renovascular hypertension (one) and dyspnea (one). The V600E BRAF mutation was verified in three of six patients tested. Interferon-α treatment was beneficial in three of six patients treated. Vemurafenib yielded dramatic neurological improvement in a BRAF mutated patient. Infliximab facilitated pericardial effusion volume reduction. Cladribine improved cerebral blood flow originally compromised by perivenous lesions. Conclusions: ECD is a complex, multi-systemic, clonal entity coalescing both neoplastic and inflammatory elements and strongly dependent on impaired RAS/RAF/MEK/ERK signaling.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Mazor, RD
Manevich-Mazor, M
Kesler, A
Aizenstein, O
Eshed, I
Jaffe, Rjafferon@pitt.eduJAFFERON
Pessach, Y
Goldberg, I
Sprecher, E
Yaish, I
Gural, A
Ganzel, C
Shoenfeld, Y
Date: 1 December 2014
Date Type: Publication
Journal or Publication Title: BMC Medicine
Volume: 12
Number: 1
DOI or Unique Handle: 10.1186/s12916-014-0221-3
Schools and Programs: School of Medicine > Pathology
Refereed: Yes
Date Deposited: 22 Dec 2016 14:55
Last Modified: 27 Mar 2021 10:55


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