Gaucher’s disease

• 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