Erdheim-Chester Disease Global Alliance

ECD is an ultra-rare type of blood cancer that is difficult to diagnose and can manifest in a variety of complex ways. With Erdheim-Chester Disease likely being underdiagnosed it is imperative to raise awareness around the world, especially in the medical community. Hematologists, together with other clinicians, pathologists, and radiologists, play a vital role in identifying ECD. If doctors can accurately and quickly recognize ECD in a patient, there are viable FDA-approved and off-label treatments available to improve quality of life, slow the progression of the life-threatening disease, and in some cases, even possibly reverse the damage done by the disorder. The key to a successful or more positive outcome is early diagnosis.

Thank you to the medical professionals that provided the information and reviews in order to support the awareness efforts of the ECDGA. Your dedication to the community will make a difference in the lives of patients and families everywhere.

Key Points for Hematologists

None of the pathologic changes are unique to ECD – clinical and radiographic features are key to diagnosis.
A high index of suspicion for ECD in patients with typical “hairy kidney”, retroperitoneal, or bone involvement, especially if concomitant diabetes insipidus.
Very important to pursue PET-CT scan from vertex to toe (whole body) to capture diamethaphyseal involvement around the knee joint and investigate for multi-organ involvement.
ECD may coexist with Langerhans Cell Histiocytosis (LCH) or myeloid neoplasm.
Molecular studies increasingly play a role in diagnosis and management.

Materials and Resources

Histiocytic Neoplasms, Version 2.2021, NCCN Clinical Practice Guidelines in OncologyVolume 19: Issue 11; Nov 2021; DOI: https://doi.org/10.6004/jnccn.2021.0053

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease.
Blood. 2014 Jul 24;124(4):483-92. doi: 10.1182/blood-2014-03-561381. Epub 2014 May 21.
This article is available from the ECD Global Alliance in Spanish. To receive a copy, please contact us.

The clinical spectrum of Erdheim-Chester disease: an observational cohort study 
Blood Adv. Author manuscript; available in PMC 2017 May 26. Blood Adv. 2017 Feb 14; 1(6): 357–366. doi: 10.1182/bloodadvances.2016001784 PMCID: PMC5446206 NIHMSID: NIHMS861108

Survivorship Issues in Adult Patients With Histiocytic Neoplasms
J Natl Compr Canc Netw. 2021 Nov;19(11):1312-1318. doi: 10.6004/jnccn.2021.7096.

Hematology Guide to ECD
As a multisystem disease, a baseline evaluation, along with close monitoring is required for all patients. See what the experts recommend in this comprehensive guide.