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

Eli L. Diamond, Lorenzo Dagna, David M. Hyman, Giulio Cavalli, Filip Janku, Juvianee Estrada-Veras, Marina Ferrarini, Omar Abdel-Wahab, Mark L. Heaney, Paul J. Scheel, Nancy K. Feeley, Elisabetta Ferrero, Kenneth L. McClain, Augusto Vaglio, Thomas Colby, Laurent Arnaud and Julien Haroche


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 more than 50% of patients, in which chronic uncontrolled inflammation is an important mediator of disease pathogenesis. Although approximately 500-550 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.

  • Submitted March 10, 2014.
  • Accepted May 4, 2014.