What condition is characterized by hepatosplenomegaly and crinkled-appearing macrophages in liver, spleen, and bone marrow?

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The condition characterized by hepatosplenomegaly and crinkled-appearing macrophages in the liver, spleen, and bone marrow is Gaucher's disease. This genetic disorder results from a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebrosides in various tissues, particularly within macrophages.

In Gaucher's disease, the macrophages, which are often referred to as "Gaucher cells," exhibit a distinctive crinkled or wrinkled appearance due to the accumulation of lipid-laden material. The presence of hepatosplenomegaly is a common finding, as the liver and spleen are involved in the clearance of the accumulated substrate. This condition primarily affects the hematologic system and can lead to symptoms such as anemia, thrombocytopenia, and bone pain due to infiltration of the bones by Gaucher cells.

The other conditions listed do not typically present with both hepatosplenomegaly and the characteristic crinkled macrophages. For instance, Fabry's disease involves the accumulation of globotriaosylceramide and primarily affects the heart and kidneys, while abetalipoproteinemia is characterized by a deficiency of apolipoprotein B

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