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Card
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Title
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Gaucher Disease
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ImagePath
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System
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Lysosomal storage disease
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Overview
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AR β‑glucocerebrosidase deficiency → glucocerebroside accumulation in macrophages (Gaucher cells).
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Pathophysiology
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Lipid‑laden macrophages infiltrate spleen, bone marrow.
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Presentation
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Hepatosplenomegaly, pancytopenia, bone crises, avascular necrosis of femur; ‘crumpled tissue paper’ cells.
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Diagnosis
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Enzyme assay; GBA gene; radiographs.
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Management
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IV imiglucerase or velaglucerase alfa ERT; substrate reducer eliglustat.
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Epidemiology
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Tags
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