IPLab:Lab 5:Gaucher Disease

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Clinical Summary[edit]

This 23-year-old female went to her doctor because of chronic fatigue, bone pain, and easy bruising and frequent nose bleeds. Physical exam demonstrated hepatomegaly and splenomegaly and lab results demonstrated anemia and thrombocytopenia. Biopsy and further workup led to a diagnosis of Gaucher disease.

Despite appropriate therapy the anemia and thrombocytopenia persisted as well as the severe splenomegaly. A splenectomy was performed. The surface of the spleen was pale and roughly granular. The cut surface revealed the same pale appearance.

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Trauma (from fracture or surgery) is one cause of asceptic (or avascular) necrosis of bone, which is defined as the death of bone and bone marrow in the abscence of an infectious agent.