Erdheim-Chester Disease (ECD) is an ultra-rare type of blood cancer that is difficult to diagnose and can manifest in a variety of complex ways. With ECD indicated as 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 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.

 

Key Points for Endocrinologists

• 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.
• Diabetes insipidus and/or hypogonadism may precede the diagnosis of disease by several years
• Adrenal encasement/infiltration usually does not lead to primary adrenal insufficiency; central adrenal insufficiency is rare but must be considered
• All central and peripheral glands can be infiltrated, but hormonal perturbations are more frequent than visible morphological anomalies
• Hormonal deficits can appear years after diagnosis, consequently, they must be re-evaluated on a yearly basis
• Men are at risk for infertility and should receive information about sperm conservation
• Metabolic syndrome in ECD is not well studied; obesity, dyslipidemia, hypertension, and dysglycemia should be addressed
• Very important to pursue a 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

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease.
Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, Ferrarini M, Abdel-Wahab O, Heaney ML, Scheel PJ, Feeley NK, Ferrero E, McClain KL, Vaglio A, Colby T, Arnaud L, Haroche J.
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
Juvianee I. Estrada-Veras, Kevin J. O’Brien, Louisa C. Boyd, Rahul H. Dave, Benjamin Durham, Liqiang Xi, Ashkan A. Malayeri, Marcus Y. Chen, Pamela J. Gardner, Jhonell R. Alvarado-Enriquez, Nikeith Shah, Omar Abdel-Wahab, Bernadette R. Gochuico, Mark Raffeld, Elaine S. Jaffe, and William A. Gahl
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

Download and print this guide for more information, a continued reference, or to share with colleagues.  Key Points for Endocrinologists

 

Contact an ECD-Experienced Endocrinologists

Fady Hannah-Shmouni, MD, DABIM, FRCPC Email: fady.hannah-shmouni@nih.gov
Carine Courtillot, MD Email: carine.courtillot@aphp.fr
Skand Shekhar, MD Telephone: 301-451-1866
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