A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.
Also Known As:
Sea Blue Histiocytosis; Histiocyte Syndrome, Sea Blue; Histiocyte Syndromes, Sea Blue; Sea-Blue Histiocyte Disease; Sea-Blue Histiocytosis; Disease, Sea-Blue Histiocyte; Diseases, Sea-Blue Histiocyte; Histiocyte Disease, Sea-Blue; Histiocyte Diseases, Sea-Blue; Histiocyte Syndrome, Sea-Blue; Histiocyte Syndromes, Sea-Blue; Histiocytoses, Sea Blue; Histiocytoses, Sea-Blue; Histiocytosis, Sea Blue; Sea Blue Histiocyte Disease; Sea Blue Histiocyte Syndrome; Sea Blue Histiocytoses; Sea-Blue Histiocyte Diseases; Sea-Blue Histiocyte Syndromes; Sea-Blue Histiocytoses; Syndrome, Sea-Blue Histiocyte; Syndromes, Sea-Blue Histiocyte; Histiocytosis, Sea-Blue