Updated: 11/23/2021

Paget Disease of Bone

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  • Snapshot
    • A 65-year-old man presents with worsening left-sided hearing loss and mild headache. He reported that his symptoms began a few months prior to presentation. He denies starting any new medications but has noticed he can no longer fit the hat he has owned for many years. Physical examination is unremarkable. Laboratory testing is notable for an elevated serum alkaline phosphatase. A radiograph of the skull is shown.
  • Introduction
    • Clinical definition
      • a progressive metabolic bone disorder of abnormal bone remodeling
        • there is excessive bone resorption and formation resulting in
          • immature woven bone with collagen fibers arranged irregularly
    • Background
      • adult bone constantly undergoes bone remodeling and is accomplished by
        • osteoclasts
          • contains receptor activator for NF-κB (RANK) transmembrane receptors which
            • responds to RANK ligand (RANKL) on osteoblasts and osteocytes to differentiate and activate in order to resorb bone
        • osteocytes
          • secrete growth factors to regulate bone formation
            • bone formation is stimulated when mechanical forces are applied to bone
          • contains RANKL
        • osteoblasts
          • contain RANKL and osteoprotegerin (OPG)
            • OPG inhibits RANKL from binding to RANK on osteoclasts, thus inhibiting bone remodeling
          • functions in bone formation
      • bone matrix has two histological forms
        • woven
          • has less structural integrity
          • seen in fetal development and fracture repair
          • always considered abnormal in adults
        • lamellar
          • has more structural integrity
    • Pathogenesis
      • genetic and environmental factors may be involved
      • increased multinucleated osteoclastic and osteoblastic activity leads to a high bone remodeling rate, leading to
        • abnormal bone architecture
      • phases
        • lytic phase
          • intense osteoclastic resorption
        • mixed phase
          • resorption and compensatory bone formation
        • sclerotic phase
          • osteoblastic bone formation predominates
        • all three phases may co-exist in the same bone
    • Associated findings
      • neurologic
        • nerve root compression
        • hearing loss
        • spinal stenosis
      • orthopedic
        • pathologic fractures
        • secondary osteoarthritis
      • oncologic
        • osteosarcoma
      • cardiovascular
        • high-output heart failure
      • labs
        • normal serum phosphate, calcium, and parathyroid hormone
        • elevated alkaline phosphatase
      • histology
        • mosaic pattern of lamellar bone with prominent cement lines
  • Normal Biology and Anatomy
    • adult bone constantly undergoes bone remodeling and is accomplished by
      • osteoclasts
        • contains receptor activator for NF-κB (RANK) transmembrane receptors which
          • responds to RANK ligand (RANKL) on osteoblasts and osteocytes to differentiate and activate in order to resorb bone
      • osteocytes
        • secrete growth factors to regulate bone formation
          • bone formation is stimulated when mechanical forces are applied to bone
        • contains RANKL
      • osteoblasts
        • contain RANKL and osteoprotegerin (OPG)
          • OPG inhibits RANKL from binding to RANK on osteoclasts, thus inhibiting bone remodeling
        • functions in bone formation
    • bone matrix has two histological forms
      • woven
        • has less structural integrity
        • seen in fetal development and fracture repair
        • always considered abnormal in adults
      • lamellar
        • has more structural integrity
    • Laboratory Abnormalities in Select Bone Disorders
      Etiology
      Serum Phosphate
      Serum Calcium
      Serum Alkaline Phosphatase
      Parathyroid Hormone
      Osteomalacia/rickets
      • Decreased
      • Decreased
      • Increased
      • Increased
      Osteoporosis
      • Normal
      • Normal
      • Normal
      • Normal
      Osteopetrosis
      • Normal
      • Normal or decreased
      • Normal
      • Normal
      Paget disease of bone
      • Normal
      • Normal
      • Elevated
      • Normal
      Osteitis fibrosa cystica
      • Primary
        hyperparathyroidism
        • decreased
      • Secondary
        hyperparathyroidism
        • increased
      • Primary
        hyperparathyroidism
        • increased
      • Secondary
        hyperparathyroidism
        • decreased
      • Primary and secondary hyperparathyroidism
        • increased
      • Primary and secondary hyperparathyroidism
        • increased
      Hypervitaminosis D
      • Increased
      • Increased
      • Normal
      • Decreased
  • Presentation
    • Symptoms
      • usually asymptomatic
      • bone and/or joint pain
      • bone deformity
        • bowing deformity
      • hearing loss
        • with skull involvement that lead to narrowing of the auditory foramen
    • Physical exam
      • typically unremarkable
  • Treatment
    • Medical
      • bisphosphonates
        • mechanism of action
          • impregnates the bone that will be acted upon by osteoclasts
            • when osteoclasts release the bisphosphonates during resorption, it impairs osteoclast activity
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(M1.MK.13.7) A 55-year-old male presents with left hip pain and stiffness. Radiographs are shown in Figures A and B. Serum alkaline phosphatase levels are elevated. A biopsy of the left femur is performed and shown in Figure C. Which of the following cells are initially responsible for this condition?

QID: 101944
FIGURES:

Osteoblasts

25%

(24/95)

Osteoclasts

71%

(67/95)

Neutrophils

0%

(0/95)

T-Cells

0%

(0/95)

Fibroblasts

2%

(2/95)

M 2 E

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