A Diagnostic Challenge: Erdheim Chester Disorder

Area of Science:

• Rare diseases
• Histiocytosis
• Medical imaging

Background:

• Erdheim-Chester disease (ECD) is a rare, multisystemic, idiopathic disorder.
• Often associated with the BRAF V600E mutation, ECD presents with variable manifestations, leading to diagnostic delays.
• While typically indolent, advanced ECD can involve vital organs and exhibit aggressive behavior.

Purpose of the Study:

• To highlight the diagnostic challenges and characteristic imaging findings of Erdheim-Chester disease.
• To present a case of ECD visualized through PET/CT imaging.
• To emphasize the importance of integrated diagnostic approaches for ECD.

Main Methods:

• Review of clinical presentation and diagnostic workup for Erdheim-Chester disease.
• Utilized whole-body imaging, specifically PET/CT, to assess disease extent.
• Emphasized histopathology and immunohistochemistry for definitive diagnosis.

Main Results:

• ECD is a non-Langerhans cell histiocytosis (class 2a) with distinct radiological features, particularly skeletal lesions.
• Whole-body imaging, including PET/CT, is valuable for evaluating disease burden and skeletal involvement.
• Central nervous system, orbital, and cardiac manifestations are common in ECD.

Conclusions:

• Early diagnosis of Erdheim-Chester disease is often delayed due to its diverse clinical and radiological presentations.
• Characteristic imaging findings, especially skeletal involvement, can suggest ECD, but confirmation requires histopathology.
• Multisystemic involvement necessitates comprehensive evaluation and integrated diagnostic strategies for effective management.