Advances in Understanding and Management of Erdheim-Chester Disease
Document Type
Article
Publication Title
Life Sciences
Abstract
Erdheim Chester Disease (ECD) is a rare histiocytic disorder marked by infiltration of organs with CD68+ histiocytes. ECD stems from mutations of BRAF and MAP2K1 in hematopoietic stem and progenitor cells (HSPCs), which further differentiate into monocytes and histiocytes. Histopathology reveals lipid-containing histiocytes, which test positive for CD68 and CD133 in immunohistochemistry. Signs and symptoms vary and depend on the organ/s of manifestation. Definitive radiological results associated with ECD include hairy kidney, coated aorta, and cardiac pseudotumor. Treatment options primarily include anti-cytokine therapy and inhibitors of BRAF and MEK signaling.
DOI
10.1016/j.lfs.2024.122692
Publication Date
7-1-2024
Recommended Citation
Kulkarni, Aniruddha Murahar; Gayam, Prasanna Kumar Reddy; and Aranjani, Jesil Mathew, "Advances in Understanding and Management of Erdheim-Chester Disease" (2024). Open Access archive. 6494.
https://impressions.manipal.edu/open-access-archive/6494
