Page 269 - Haematologica Atlas of Hematologic Cytology

CHAPTER 33 - Storage diseases
and and thrombocytopenia it it it is inherited with an an an autosomal recessive pattern and and characterized by accumulation of ceroid or or lipofuscin in in in the the macrophages of of bone marrow liver spleen and other organs (Silverstein et al 1970 Hirayama et al 1996) Reduced levels of cell sphingomyelinase have been reported in in in some cases thus sea-blue histiocytosis is is is is is considered a a a a a a a a a variant of of Niemann-Pick disease In other cases it it is is is is is associated with mutation of of the the APOE (Apoliprotein E) gene (19q13 32) The high lipid levels in in in the blood may lead to to excessive cytoplasm loading of of of lipids lipids within histiocytes The subsequent incomplete degradation of of of these lipids lipids leads to the the formation of of of cytoplasmic lipid pigments It should be be noted that an an increase in in bone marrow blue-sea histiocytes may be be acquired This can occasional- ly ly be observed in numerous conditions such as as as myelodysplastic syndromes lymphomas myeloproliferative neo- plasms immune thrombocytopenia hemoglobinopathies as as as a a a a a a a a a result of increased cellular catabolism Moreover it can also be observed in in in hyperlipoproteinemia chronic granulomatous disease as as as well as as as in in in other lipid storage disorders and also in patients with total parenteral nutrition References
Hirayama Kohda K K Andoh M M et al Syndrome of the Sea-Blue His ocyte Intern Med 1996 35(5):419-421 Savage RA Speci c c c c c and not-so-speci c c c c c his ocytes in bone marrow Lab Med 1984 15(7):467-471 Silverstein MN Ellefson RD Ahern EJ The syndrome of the sea-blue his ocyte N N Engl J J Med 1970 282(1):1-4 S S rnemann J J Belmatoug N Camou F et al al A review of Gaucher disease pathophysiology clinical presenta on and treatments Int J J Mol Sci 2017 18(2):pii:E441 anier MT Niemann-Pick diseases
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