Gaucher's disease

Gaucher’s disease

Gaucher's diseaseGaucher's diseaseErlenmeyer flask deformity

  • Facts:
    Type 1 lysosomal storage disease

    Glucocerebrosidase (acid beta-glucosidase) deficiency

    Common in Ashkenazi Jewish population
  • History / PE:
    Easy bruisability (thrombocytopenia)

    Chronic fatigue (anemia)

    Bone pain/pathological fractures
  • Diagnosis:
    Gaucher cells with wrinkled paper appearance

    Erlenmeyer flask deformity of distal femur

  • Treatment:
    Enzyme replacement therapy

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