A patient presents with splenomegaly and bone pain. Laboratory findings reveal large macrophages with small eccentric nuclei and cytoplasm with a wrinkled appearance. Further testing shows leukopenia, thrombocytopenia, and anemia. How can the diagnosis be confirmed?

Question

Quizplus · Accepted Answer

The presentation of splenomegaly, bone pain, and morphologic characteristics of macrophages with wrinkled cytoplasm suggest the diagnosis of Gaucher disease. Confirmation of the diagnosis can be made by testing for decreased β-glucosidase activity, which is characteristic of Gaucher disease. Positive Philadelphia chromosome is associated with chronic myelogenous leukemia, positive PDGFR mutation is associated with chronic eosinophilic leukemia, and absence of cell surface adhesion proteins is seen in leukocyte adhesion deficiency.

A Patient Presents with Splenomegaly and Bone Pain