Gaucher’s Disease

• Deficiency of glucocerebrosidase (hydrolyzes glucocerebrocide)
• Macrophages accumulate glucocerebricide after cell phagocytosis & are Gaucher Cells which accumulate in
  • Liver
  • Spleen
  • Marrow

Features

• Coagulation anomaly
• Splenomegaly
• Hepatomegaly
• Skeletal
  • metaphyseal widening
  • Pseudoosteomyelitis
  • Pathologic fracture
  • AVN
  • Haemorrhagic cells
  • Septic arthritis
  • Osteopenia
  • Vertebral widening

Gaucher Crisis

• “pseudoosteomyelitis”
• acute intense  pain
• distal femur, proximal tibia, & proximal femur
• mild localised tenderness & swelling
• fever
• WBC ↑
• ESR ↑
• Aetiology is bleeding in the IM canal or subperiosteal with blood under pressure – mimics osteomyelitis

Treatment

• Rule out osteomyelitis including bone biopsy
• IV narcotics
• Watch for AVN of femoral head
• Watch for subsequent osteomyelitis
• Check for associated medical problems
• Pathologic fracture has high rate of delayed & nonunion

Medical Treatment

• agucerase replacement

Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.