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Updated: Dec 25 2021

Gaucher Disease

  • Snapshot
    • A young boy presents with chronic fatigue and hepatosplenomegaly. Bone marrow aspirate histology is shown at the right.
  • Introduction
    • Autosomal recessive deficiency in B-glucocerebrosidase
    • Leads to accumulation of sphingolipids
      • liver
      • spleen
      • bone marrow
    • Most common cause of lysosomal enzyme deficiency in Ashkenazi Jews
  • Presentation
    • Symptoms
      • chronic fatigue
    • Physical exam
      • hepatosplenomegaly
      • bony abnormalities - avascular necrosis
      • anemia (and sometimes pancytopenia)
    • Labs
      • Diagnosis can be confirmed by measurement of acid beta-glucosidase activity in peripheral blood leukocytes
    • Histology
      • bone marrow aspirate shows a giant binucleate storage cell filled with glucocerebrosides
        • which accumulate because of an hereditary deficiency of Beta-glucocerebrosidas
  • Treatment
    • Enzyme substitute Imiglucerase (Cerezyme)
    • Fatal in enzyme substitute not given
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