%0 Journal Article
%T Advances in Understanding and Management of Erdheim-Chester Disease.
%A Kulkarni AM
%A Gayam PKR
%A Aranjani JM
%J Life Sci
%V 348
%N 0
%D 2024 Jul 1
%M 38710283
%F 6.78
%R 10.1016/j.lfs.2024.122692
%X 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.