Endocrinology Resources

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.

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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