Advances in Understanding and Management of Erdheim-Chester Disease

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.

Keywords: BRAFV600E; Erdheim-Chester disease; Histiocytosis; MAPK; Trametinib; Vemurafenib.