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Paget’s disease is caused by increased bone remodelling by osteoclasts and osteoblasts. This results in in bone enlargement, pain, deformity and weakness. The cause is unknown.

Epidemiology

  • 1-2% of white >55 year olds
  • High incidence in UK; low incidence in Asia

Investigations

  • Imaging: plain X-rays (bone enlargement and ‘cotton wool’ lytic/sclerotic pattern), bone scan (scintigraphy/technetium scan)
  • Blood tests: ALP (increased), calcium/phosphate/vitamin D (all normal) 
  • Other tests: urine/serum hydroxyproline, urine pyridinoline, serum procollagen I N-terminal peptide (PINP)

Clinical features

Symptoms

  • Bony pain
  • Pathological fractures 

Signs

  • General inspection
    • Kyphosis
    • Paraplegia (spinal disease) 
    • Bone pain
  • Hands inspection
    • Osteoarthritis
  • Face
    • Frontal bossing of skull
    • Nerve deafness and tinnitus (due to bony compression of CN8)
    • Enlarged maxilla
  • Neck
    • Raised JVP (heart failure due to hyperdynamic circulation) 
  • Legs
    • Bowed femur
    • Sabre (bowed) tibia
    • Feel warm
    • Pathological fractures
    • Osteoarthritis

Management

  • Analgesia (e.g. NSAIDs)
  • Bisphosphonates (e.g. alendronic acid)
  • Ensure adequate vitamin D and calcium intake
  • Physiotherapy

Complications

  • Secondary osteosarcoma
  • Nerve compression
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