University of Wisconsin–Madison Medical College of Wisconsin

An Unusual Case of Disseminated Erdheim-Chester Disease

Samira Samant, MD; Andrii Puzyrenko, MD, PhD; Haisam Abid, MD

WMJ. 2024;123(3); published online in advance June 3, 2024.

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Introduction: Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic multisystem disorder, deriving from mononuclear phagocytic cells. It is notoriously challenging to diagnose. Here we present a case of a patient with multisystem ECD.

Case Presentation: A 76-year-old female with a history of Hashimoto’s thyroiditis who presented with persistent leukocytosis was found to have bilateral renal enlargement with a perinephric mass, a recurrent pericardial effusion, and bilateral pleural effusions. Following biopsies of several sites of involvement, a diagnosis of ECD was made.

Discussion: The existing literature on ECD is sparse, and no diagnostic criteria have been put forward due to widely differing presentations, although the most common is skeletal. Definitive diagnosis requires a tissue sample.

Conclusions: In presenting our clinical reasoning and approach, we hope to contribute to the existing body of literature on ECD, with the aim of ultimately having sufficient data to compile a diagnostic framework for other clinicians who encounter ECD.

Author Affiliations: Kaiser Permanente, Santa Clara, California (Samant); Medical College of Wisconsin, Milwaukee, Wisconsin (Puzyrenko, Abid).
Corresponding Author: Samira Samant, MD, Kaiser Permanente, 700 Lawrence Expressway, Santa Clara, CA 95051; phone 408.516.7898; email; ORCID ID 0009-0006-2304-2715
Funding/Support: None declared.
Financial Disclosures: None declared.
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