Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease.
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.
Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY;
Eli L
EL
Diamond
Unit of Medicine and Clinical Immunology, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy;
Lorenzo
L
Dagna
Developmental Therapeutics Unit, Memorial Sloan-Kettering Cancer Center, New York, NY;
David M
DM
Hyman
Unit of Medicine and Clinical Immunology, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy;
Giulio
G
Cavalli
Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX;
Filip
F
Janku
Medical Genetics Branch, Office of the Clinical Director, National Human Genome Research Institute, and Hematology Section, Department of Laboratory Medicine, National Institutes of Health, Bethesda, MD;
Juvianee
J
Estrada-Veras
Department of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy;
Marina
M
Ferrarini
Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan Kettering Cancer Center, New York, NY;
Omar
O
Abdel-Wahab
Division of Hematology/Oncology, Columbia University Medical Center, New York, NY;
Mark L
ML
Heaney
Division of Nephrology, The Johns Hopkins University School of Medicine, Baltimore, MD.
Paul J
PJ
Scheel
Division of Nephrology, The Johns Hopkins University School of Medicine, Baltimore, MD.
Nancy K
NK
Feeley
Department of Oncology, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Scientific Institute, Milan, Italy;
Elisabetta
E
Ferrero
Texas Children's Cancer and Hematology Centers, Baylor College of Medicine, Houston, TX;
Kenneth L
KL
McClain
University Hospital of Parma, Parma, Italy;
Augusto
A
Vaglio
Mayo Clinic-Arizona, Laboratory Medicine and Pathology, Scottsdale, AZ; and.
Thomas
T
Colby
Department of Internal Medicine, Assistance Publique - Hôpitaux de Paris, French Reference Center for Auto-Immune Diseases, Hôpital Pitié-Salpêtrière, Paris, France.
Laurent
L
Arnaud
Department of Internal Medicine, Assistance Publique - Hôpitaux de Paris, French Reference Center for Auto-Immune Diseases, Hôpital Pitié-Salpêtrière, Paris, France.
Julien
J
Haroche
D032921:Consensus; D031249:Erdheim-Chester Disease / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans