paget's disease of bone

definition

·      process of increased bone remodelling

·      initial increased resorption (osteoclastic activity)

·      secondary increased reactive formation (osteoblastic activity)

·      polyostotic or monostotic

·      asymmetrical

·      majority are asymptomatic

epidemiology

·      3-4% of those age > 40

·      10-15% of those age > 70

·      more common in men

·      racial and geographic variations

·      common in British

·      rare in Asians

·      positive family history in 15%

·      most common sites involved

·      spine

·      femora

·      cranium

·      pelvis

aetiology

·      not definitely known

·      recent evidence supports virus

·      likely paramyxoviridae family

·      suggested by histology (giant multinucleated osteoclasts and intranuclear inclusion bodies)

·      no definite virus isolated

pathology
Gross

·      spongy

·      generalised enlargement

·      thickened cortices

·      coarsened trabeculae

·      frequently bowed due to poor structural integrity

Histology

·      irregular segments of mature (lamellar) bone with

·      increased cellularity (osteoclasts, osteoblasts and fibroblasts)

·      increased vascularity

·      multinucleated osteoclasts with nuclear inclusion bodies

·      irregularly arranged cement lines

·      resultant mosaic pattern is diagnostic

pathophysiology

·      two phases

Active

Osteolytic (early)

·      early in active phase, osteoclasts hyperactive

·      leads to increased destruction with

·      osteoporosis

·      fibrovascular hyperplasia

Mixed

·      resorption stimulates osteoblastic activity

·      bone resorption and formation become balanced

·      histologically abnormal bone produced

Osteosclerotic (late)

·      osteoblastic activity exceeds osteoclastic activity

·      sclerotic ivory-hard bone produced

Inactive

·      bone remodelling and turnover decrease toward normal

·      what remains is bone that is

·      enlarged

·      sclerotic

·      often deformed

clinical

·      usually asymptomatic

·      most common symptoms are pain and deformity

·      other clinical presentations include

·      pathological fractures

·      neurocompression

·      arthritis

·      vascular shunting

·      hypercalcaemia and hypercalcuria

·      cardiovascular (esp. high-output cardiac failure)

·      malignant degeneration

Pain

Bone pain

·      due to metabolic activity of disease (? weakening of bone)

·      deep and aching

·      may be back pain, pelvic pain or limb pain

Neurological impingement

·      back and typical radicular leg pain

Arthritis

·      due to disturbance of subchondral bone and secondary derangement of joint mechanics

·      hip usually shows loss of medial joint space (cf. superior with primary OA)

Impending fracture

·      pain on weight bearing

Deformity

·      characterised by increased size and abnormal shape of bones

·      skull enlargement, esp. frontal and occipital

·      femora bow laterally and anteriorly

·      tibia bow anteriorly and laterally

Pathological fractures

·      incidence of 10-30%

·      most frequently in

·      femoral neck

·      subtrochanteric femur

·      tibias

·      usually transverse or short oblique

Neurological complications

·      infiltration into inner ear

·      neurosensory deafness from cochlear dysfunction

·      conductive deafness from ossicle ankylosis

·      mechanical compression on neural foramina of exiting cranial nerves

·      softening and basilar invagination with vascular compression

·      brain stem or cerebellar compression

·      blockage of CSF flow with hydrocephalus

Cardiovascular complications

·      high-output cardiac failure

·      from increased bone blood flow

·      pagetic steal syndrome

·      from brain to external carotid system

·      from spine to vertebral bodies

Malignant transformation

·      rare (1%)

·      but in those age > 70, 20-30% of bone sarcomas related to Pagets disease

·      osteosarcoma or malignant fibrous histiocytoma

laboratory

·      uses

·      confirm initial diagnosis

·      monitor effects of treatment

·      Ca++, PO4-- and PTH normal

Alkaline phosphatase

·      measure of osteoblastic activity

·      correlates with disease extent

·      may be normal with localised Paget’s disease

·      50% of ALP is of extraskeletal (hepatic) origin

·      can distinguish hepatic cause by

·      assessment of other LFTs

·      assessment of  urinary hydroxyproline

Hydroxyproline

·      marker of osteoclastic activity

·      reflects collagen turnover

·      24 hour urine level measured

·      rapidly reflects response to treatment

·      disadvantage is lack of sensitivity

Pyridinium crosslinks

·      new measure of bone resorption

·      measures urinary excretion of hyrdroxy-pyridinium crosslinks of collagen

·      derived from degradation of mature bone collagen

·      may be more specific marker than hydroxyproline

radiology
Plain radiography

·      focal areas of bone resorption and formation that appear as radiolucencies and radiodensities

·      overall bone size enlarged

·      trabecular pattern coarsened and irregular

Active stage

Skull

·      osteoporosis circumscripta

·      sharply defined radiolucent area in cranium

Long bones

·      flame sign

·      flame-shaped osteolytic front extending from ends of long bones

Inactive stage

Skull

·      cotton wool skull

·      fluffy thickened areas of sclerotic bone

Spine

·      cortical sclerosis with picture frame vertebra

·      uniform sclerosis with ivory vertebra

Long bones

·      sclerosis with cortical thickening

Complications

·      bowing

·      esp. femur and tibia

·      pseudofractures

·      “stress” fractures

·      transverse incomplete fissures

·      on convex aspect

·      pathological fractures

·      secondary arthritic changes

·      esp. hip and knee

Bone scan

·      high turnover leads to hot spot

·      may be less hot with treatment or in inactive phase

·      useful

·      to confirm diagnosis

·      as baseline

CT scan

·      useful to diagnose or exclude sarcomatous change

treatment
Indications

Pharmacotherapy

Definite

·      pain (most common indication)

·      spinal stenosis

Doubtful

·      deafness

·      deformity

·      before orthopaedic operations

·      high-output cardiac failure

Orthopaedic surgery

·      severe arthritis of hip, knee or shoulder

·      severe bowing of femur or tibia

·      pathological fracture

·      sarcomatous degeneration

Neurosurgery

·      brainstem compression

·      spinal cord compression

 Pharmacotherapy

Calcitonin

·      small polypeptide hormone

·      secreted by parafollicular cells of thyroid

·      potent inhibitor of osteoclastic activity

·      human, salmon, eel, and porcine forms available

·      must be given by injection

·      intranasal spray recently available

·      expensive drug

·      minimal side-effects (nausea, flushing)

·      dose as follows

·      start with 50-100U daily

·      reduce to three times a week after response

·      usually see response within 2-6 weeks

·      if no response within 3 months, discontinue

·      relapse occurs in 30% of patients

·      antibodies develop in 60% of patients

·      only 10% have antibody-mediated resistance

·      can be overcome by use of human form

Diphosphonates

·      act as analogues of pyrophosphate

·      interfere with growth and dissolution of hydroxyapatite crystals

·      directly impair osteoclastic activity

·      impair normal mineralisation of osteoid in high dose

·      cause focal osteomalacia

·      may lead to pathological fracture

·      advantages over calcitonin

·      oral administration

·      less expensive

·      relapse less common

·      three forms

·      etidronate (only one available in Aust)

·      clodronate

·      pamidronate

·      etidronate used in two regimens

·      5 mg/kg/day for 6 months

·      20 mg/kg/day for 1 month (? less osteomalacia)

Mithramycin

·      antibiotic with cytotoxic properties

·      strong inhibitor of osteoclasts

·      causes hypocalcaemia

·      rapidly relieves pain from Pagets disease

·      significant toxic side-effects

·      only used for Paget's paraplegia

Serial treatment

·      enhances effects and ameliorates side-effects

·      calcitonin 50U S/C 3 times/wk for 6 months THEN

·      etidronate 5 mg/kg/day for 6 months WITH

·      one month overlap

Approach

Asymptomatic patients

·      normal bone turnover

·      no treatment

·      increased bone turnover

·      diphosphonates (APD) until normal

Symptomatic patients

·      ensure pain attributable to Paget's disease

·      normal bone turnover

·      simple analgesia

·      moderately increased bone turnover (ALP 2-3x normal)

·      salmon calcitonin or diphosphonates

·      very high bone turnover (ALP >3x normal)

·      serial treatment with calcitonin and etidronate

Special problems

·      use calcitonin in presence of impending or pathological fractures

·      because of effect on mineralisation of diphosphonates

·      try medical treatment first in spinal stenosis

·      may decrease blood flow to vertebrae and prevent ‘steal’ syndrome

Surgery

Fractures

Stress fractures

·      try bracing and non-weight bearing

·      if fails to heal in 3-6 months, prophylactic internal fixation

Completed fractures

·      femoral neck fractures

·      hemiarthroplasty preferable

·      may have problem with protrusio

·      consider THR if acetabulum involved

·      intertrochanteric or subtrochanteric fractures

·      orthodox techniques

·      may have technical difficulties (enlarged sclerotic deformed bone)

·      non-union common in subtrochanteric fractures

·      femoral shaft fractures

·      use nail

·      tibial fractures

·      usually treated closed

·      fractures usually heal with abundant callus

·      delayed union more common with sclerotic phase

·      calcitonin useful to promote healing

Arthritis

·      good success rates from arthroplasty

·      only slight increased risk of hip arthroplasty loosening reported

·      must plan preoperatively

·      must differentiate joint pain from other causes

·      metabolic pain

·      nerve compression

Problems with THR

·      increased bleeding

·      sclerotic bone with difficult reaming

·      bony deformities

·      varus neck-shaft angle with tendancy for femoral component in varus

·      protrusio acetabuli

·      postoperative heterotopic bone formation

Osteotomy

·      performed to

·      improve deformity

·      improve mechanics of weight-bearing joints

·      good results from high tibial osteotomy if prerequisites present

·      intertrochanteric hip osteotomy less reliable