Updated: 8/13/2017

Gaucher Disease

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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)
Evaluation
  • 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)
Prognosis, Prevention, and Complications
  • Fatal in enzyme substitute not given
 

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