A scale for patient-reported symptom assessment for patients with Erdheim-Chester disease Journal Article


Authors: Diamond, E. L.; Reiner, A. S.; Buthorn, J. J.; Shuk, E.; Applebaum, A. J.; Hyman, D. M.; Abdel-Wahab, O.; Rampal, R.; Janku, F.; Brewer, K.; Campbell, J.; Mao, J. J.; Atkinson, T. M.; Panageas, K. S.
Article Title: A scale for patient-reported symptom assessment for patients with Erdheim-Chester disease
Abstract: Erdheim-Chester disease (ECD) is an ultra-rare hematologic neoplasm characterized by somatic mutations of the MAPK pathway and by accumulation of lesional histiocytes within tissues. Clinical phenotypes and sites of disease involvement are heterogenous in ECD, and no tool exists for systematic and comprehensive assessment of ECD symptomatology. We describe a collaborative effort among ECD specialists, patient-reported outcome (PRO) methodologists, and ECD patients to develop the Erdheim-Chester Disease Symptom Scale (ECD-SS): a symptom inventory for clinical ECD care and evaluation of ECD therapies. Methodologically rigorous focus groups led to the identification of 63 ECD symptoms in 6 categories, incorporated into the ECD-SS with respect to both severity and frequency. Among 50 ECD patients participating in a prospective registry study completing the ECD-SS, 46 (92%) reported neurological/psychological symptoms, 29 (58%) reported pain, and at least one-half reported mood symptoms, memory problems, or fatigue. Symptoms were highly frequent or almost constant regardless of their severity. The ECD-SS is a rigorously developed, patient-centered tool that demonstrates the wide and previously unappreciated burden of symptomatology experienced by ECD patients. Further studies will refine the symptom inventory and define its psychometric properties and role in clinical care and investigation in the context of ECD. © 2019 by The American Society of Hematology.
Keywords: adult; clinical article; aged; fatigue; pain; cohort analysis; patient care; disease severity; medical specialist; rating scale; personal experience; mood disorder; patient-reported outcome; disease burden; human; male; female; priority journal; article; erdheim chester disease
Journal Title: Blood Advances
Volume: 3
Issue: 7
ISSN: 2473-9529
Publisher: American Society of Hematology  
Date Published: 2019-04-09
Start Page: 934
End Page: 938
Language: English
DOI: 10.1182/bloodadvances.2018030502
PUBMED: 30917949
PROVIDER: scopus
PMCID: PMC6457219
DOI/URL:
Notes: Article -- Export Date: 2 August 2019 -- Source: Scopus
Altmetric Score
MSK Authors
  1. Anne S Reiner
    126 Reiner
  2. Raajit Kumar Rampal
    141 Rampal
  3. David Hyman
    216 Hyman
  4. Katherine S Panageas
    332 Panageas
  5. Elyse Shuk
    52 Shuk
  6. Eli Louis Diamond
    92 Diamond
  7. Jun J Mao
    71 Mao