TY - JOUR
T1 - Advances in Understanding and Management of Erdheim-Chester Disease
AU - Kulkarni, Aniruddha Murahar
AU - Gayam, Prasanna Kumar Reddy
AU - Aranjani, Jesil Mathew
N1 - Publisher Copyright:
© 2024 The Authors
PY - 2024/7/1
Y1 - 2024/7/1
N2 - 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.
AB - 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.
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U2 - 10.1016/j.lfs.2024.122692
DO - 10.1016/j.lfs.2024.122692
M3 - Review article
C2 - 38710283
AN - SCOPUS:85192171885
SN - 0024-3205
VL - 348
JO - Life Sciences
JF - Life Sciences
M1 - 122692
ER -