Pulmonary involvement in Erdheim‐Chester disease: A single‐center study of thirty‐four patients and a review of the literature

Arnaud, Laurent; Isabelle, Pierre; Beigelman-Aubry, Cathérine; Capron, Frédérique; Brun, Anne-Laure; Rigolet, Aude; Girerd, Xavier; Weber, Nina; Piette, Jean‐Charles; Greniér, Philippe; Amoura, Zahir; Haroche, Julien

doi:10.1002/art.27672

Cited by 127 publications

(126 citation statements)

References 14 publications

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“…Radiographic lung involvement may be present in up to one-half of cases, involving either the lung parenchyma or the pleura ( Figure 2C). 15,43 Plain films are typically normal, but high-resolution CT may demonstrate interlobular septal thickening, ground-glass opacities, or centrilobular opacities. 22 Frank consolidations are uncommon.…”

Section: Consensus Guidelines For Erdheim-chester Disease 485mentioning

confidence: 99%

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

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Dagna

Hyman

et al. 2014

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Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis. Recent findings suggest that ECD is a clonal disorder, marked by recurrent BRAFV600E mutations in >50% of patients, in which chronic uncontrolled inflammation is an important mediator of disease pathogenesis. Although ∼500 to 550 cases have been described in the literature to date, increased physician awareness has driven a dramatic increase in ECD diagnoses over the last decade. ECD frequently involves multiple organ systems and has historically lacked effective therapies. Given the protean clinical manifestations and the lack of a consensus-derived approach for the management of ECD, we provide here the first multidisciplinary consensus guidelines for the clinical management of ECD. These recommendations were outlined at the First International Medical Symposium for ECD, comprised of a comprehensive group of international academicians with expertise in the pathophysiology and therapy of ECD. Detailed recommendations on the initial clinical, laboratory, and radiographic assessment of ECD patients are presented in addition to treatment recommendations based on critical appraisal of the literature and clinical experience. These formalized consensus descriptions will hopefully facilitate ongoing and future research efforts in this disorder. (Blood. 2014;124(4):483-492)

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Section: Consensus Guidelines For Erdheim-chester Disease 485mentioning

confidence: 99%

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

Diamond

Dagna

Hyman

et al. 2014

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“…2,17 Pulmonary involvement was defined radiologically (typical lesions on high-resolution chest CT scan), according to previously published criteria. 18,19 Statistics Survival curves were built according to the Kaplan-Meier method, considering the time from diagnosis of ECD to death or to last follow-up as the time to event. Comparison of Kaplan-Meier survival estimates was performed using the log-rank test.…”

Section: Assessment Of Variables Of Interestmentioning

confidence: 99%

CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients

Arnaud

Hervier

Néel

et al. 2011

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Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis,with noncodified therapeutic management and high mortality. No treatment has yet been shown to improve survival in these patients. We conducted a multicenter prospective observational cohort study to assess whether extraskeletal manifestations and interferon-␣ treatment would influence survival in a large cohort of ECD patients. To achieve this goal, we thoroughly analyzed the clinical presentation of 53 patients with biopsyproven ECD, and we performed a survival analysis using Cox proportional hazard model. Fifty-three patients (39 men and 14 women) with biopsy-proven ECD were followed up between November 1981 and November 2010. Forty-six patients (87%) received interferon-␣ and/or PEGylated interferon-␣. Multivariate survival analysis using Cox proportional hazard model revealed that central nervous system involvement was an independent predictor of death (hazard ratio ‫؍‬ 2.51; 95% confidence interval, 1.28-5.52; P ‫؍‬ .006) in our cohort. Conversely, treatment with interferon-␣ was identified as an independent predictor of survival (hazard ratio ‫؍‬ 0.32; 95% confidence interval, 0.14-0.70; P ‫؍‬ .006). Although definitive confirmation would require a randomized controlled trial, these results suggest that interferon-␣ improves survival in ECD patients. This may be seen as a significant advance, as it is the first time a treatment is shown to improve survival in this multisystemic disease with high mortality. (Blood. 2011;117(10):2778-2782)

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“…In 2008, we performed a retrospective analysis of the lungs of 34 consecutive patients with ECD [33]. Involvement of the lung parenchyma in 53 % of the cases, and of the pleura in 41 %, was revealed by high-resolution thoracic CT scans [34•…”

Section: Lung Involvementmentioning

confidence: 99%

Erdheim–Chester Disease

et al. 2014

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Erdheim-Chester disease (ECD) is a rare (approximately 500 known cases worldwide), non-inherited, nonLangerhans form of histiocytosis of unknown origin, first described in 1930. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by foamy histiocytes, "lipid-laden" macrophages, or histiocytes, surrounded by fibrosis. Diagnosis of ECD involves the analysis of histiocytes in tissue biopsies: these are typically foamy and CD68+ CD1a− in ECD, whereas in Langerhans cell histiocytosis (LCH) they are CD68+ CD1a+. 99 Technetium bone scintigraphy revealing nearly constant tracer uptake by the long bones is highly suggestive of ECD, and a "hairy kidney" appearance on abdominal CT scan is observed in approximately half of ECD cases. Central nervous system involvement is a strong prognostic factor and an independent predictor of death in cases of ECD. Optimum initial therapy for ECD seems to be administration of interferon α (or pegylated interferon α), and prolonged treatment significantly improves survival; however, tolerance may be poor. Cases of ECD present with strong systemic immune activation, involving IFNα, IL-1/IL1-RA, IL-6, IL-12, and MCP-1, consistent with the systemic immune Th-1-oriented disturbance associated with the disease. More than half of ECD patients carry the BRAF V600E mutation, an activating mutation of the protooncogene BRAF. A small number of patients harboring this mutation and with severe multisystemic and refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which was proved very beneficial.

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Pulmonary involvement in Erdheim‐Chester disease: A single‐center study of thirty‐four patients and a review of the literature

Cited by 127 publications

References 14 publications

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients

Erdheim–Chester Disease

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